Linked Data
dbSNP Id:
rs1555397062
gnomAD v3:
14-92071010-C-CTGCTGCTGCTGCTGCTGCTGCTG
gnomAD v4:
14-92071010-C-CTGCTGCTGCTGCTGCTGCTGCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTGCTG , CM000676.2:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTGCTG | GRCh38 |
| NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTG , CM000676.1:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTG | GRCh37 |
| NC_000014.7:g.91607107_91607108insTGCTGCTGCTGCTGCTGCTGCTG | NCBI36 |
| NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAGCAGCAGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359366.10:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000557030.6:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000557311.6:c.378_379insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000450642.2:p.Gly127GlnfsTer? | |
| ENST00000644486.2:c.915_916insCAGCAGCAGCAGCAGCAGCAGCA MANE Select | ENSP00000496695.1:p.Gly306GlnfsTer33 | |
| ENST00000647161.1:c.915_916insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000493680.1:p.Gly306GlnfsTer33 | |
| ENST00000340660.10:c.750_751insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000339110.6:p.Gly251GlnfsTer33 | |
| ENST00000359366.9:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000393287.9:c.762_763insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000376965.6:p.Gly255GlnfsTer33 | |
| ENST00000429774.6:c.705_706insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000389376.3:p.Gly236GlnfsTer33 | |
| ENST00000502250.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000425322.1:p.Gly127GlnfsTer33 | |
| ENST00000503767.5:c.870_871insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000426697.1:p.Gly291GlnfsTer33 | |
| ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCAGCAGCAGCAGCA | ||
| ENST00000532032.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000437157.1:p.Gly306GlnfsTer33 | |
| ENST00000545170.5:c.942_943insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000445618.2:p.Gly315GlnfsTer33 | |
| ENST00000553287.5:n.653_654insCAGCAGCAGCAGCAGCAGCAGCA | ||
| ENST00000553309.5:n.949_950insCAGCAGCAGCAGCAGCAGCAGCA | ||
| ENST00000553488.5:c.*730_*731insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000452461.1:n.*730_*731insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000553491.5:c.762_763insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451996.1:p.Gly255GlnfsTer? | |
| ENST00000553498.5:n.838_839insCAGCAGCAGCAGCAGCAGCAGCA | ||
| ENST00000553570.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451405.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000553686.5:n.796_797insCAGCAGCAGCAGCAGCAGCAGCA | ||
| ENST00000554040.5:n.519_520insCAGCAGCAGCAGCAGCAGCAGCA | ||
| ENST00000554214.5:n.698_699insCAGCAGCAGCAGCAGCAGCAGCA | ||
| ENST00000554350.5:c.*515_*516insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451103.1:n.*515_*516insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000554491.5:n.991_992insCAGCAGCAGCAGCAGCAGCAGCA | ||
| ENST00000554592.5:c.912_913insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451385.1:p.Gly305GlnfsTer33 | |
| ENST00000554672.5:c.621_622insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451417.1:p.Gly208GlnfsTer33 | |
| ENST00000554994.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451771.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000555381.5:c.705_706insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451001.1:p.Gly236GlnfsTer33 | |
| ENST00000555816.5:c.*422_*423insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451910.1:n.*422_*423insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000555958.5:n.784_785insCAGCAGCAGCAGCAGCAGCAGCA | ||
| ENST00000556082.5:c.*325_*326insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000450492.1:n.*325_*326insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000556220.5:c.597_598insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000450641.1:p.Gly200GlnfsTer? | |
| ENST00000556274.5:c.*578_*579insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451733.1:n.*578_*579insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000556288.5:c.*566_*567insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000450566.1:n.*566_*567insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000556315.5:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451132.1:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000556339.5:n.452_453insCAGCAGCAGCAGCAGCAGCAGCA | ||
| ENST00000556374.5:c.*643_*644insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451399.1:n.*643_*644insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000556644.5:n.299_300insCAGCAGCAGCAGCAGCAGCAGCA | ||
| ENST00000556671.5:c.*493_*494insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451693.1:n.*493_*494insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000556898.5:c.*412_*413insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000451769.1:n.*412_*413insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000556958.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000452532.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000557030.5:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000557311.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000450642.1:p.Gly127GlnfsTer33 | |
| ENST00000558190.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000478320.1:p.Gly306GlnfsTer33 | |
| ENST00000617719.4:c.*73_*74insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000481998.1:n.*73_*74insCAGCAGCAGCAGCAGCAGCAGCA | |
| ENST00000620536.4:c.942_943insCAGCAGCAGCAGCAGCAGCAGCA | ENSP00000484016.1:p.Gly315GlnfsTer? | |
| ENST00000624063.1:c.31_32insTGCTGCTGCTGCTGCTGCTGCTG | ENSP00000485197.1:p.Pro11LeufsTer? | |
| NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAGCAGCA | NP_001121168.1:p.Gly291GlnfsTer33 | |
| NM_001127697.2:c.762_763insCAGCAGCAGCAGCAGCAGCAGCA | NP_001121169.2:p.Gly255GlnfsTer33 | |
| NM_001164774.1:c.232_233insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158246.1:p.Gly78AlafsTer? | |
| NM_001164776.1:c.277_278insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158248.1:p.Gly93AlafsTer? | |
| NM_001164777.1:c.112_113insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158249.1:p.Gly38AlafsTer? | |
| NM_001164778.1:c.430_431insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158250.1:p.Gly144AlafsTer? | |
| NM_001164779.1:c.552_553insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158251.1:p.Gly185GlnfsTer33 | |
| NM_001164780.1:c.378_379insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158252.1:p.Gly127GlnfsTer33 | |
| NM_001164781.1:c.705_706insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158253.1:p.Gly236GlnfsTer33 | |
| NM_001164782.1:c.67_68insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158254.1:p.Gly23AlafsTer? | |
| NM_004993.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCA | NP_004984.2:p.Gly306GlnfsTer33 | |
| NM_030660.4:c.750_751insCAGCAGCAGCAGCAGCAGCAGCA | NP_109376.1:p.Gly251GlnfsTer33 | |
| NR_028453.1:n.898_899insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028454.1:n.733_734insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028455.1:n.952_953insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028456.1:n.787_788insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028457.1:n.1043_1044insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028458.1:n.887_888insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028459.1:n.1038_1039insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028460.1:n.413_414insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028461.1:n.896_897insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028462.1:n.875_876insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028463.1:n.587_588insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028464.1:n.885_886insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028465.1:n.907_908insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028466.1:n.533_534insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028467.1:n.899_900insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028468.1:n.731_732insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028469.1:n.745_746insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028470.1:n.203_204insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_031765.1:n.400_401insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAGCAGCA | NP_001121168.1:p.Gly291GlnfsTer33 | |
| NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158246.1:p.Gly78AlafsTer? | |
| NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158248.1:p.Gly93AlafsTer? | |
| NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158249.1:p.Gly38AlafsTer? | |
| NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158250.1:p.Gly144AlafsTer? | |
| NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158251.1:p.Gly185GlnfsTer33 | |
| NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158252.1:p.Gly127GlnfsTer33 | |
| NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158254.1:p.Gly23AlafsTer? | |
| NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAGCAGCA MANE Select | NP_004984.2:p.Gly306GlnfsTer33 | |
| NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAGCAGCA | NP_109376.1:p.Gly251GlnfsTer33 | |
| NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAGCAGCA | ||
| NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAGCAGCA | NP_001121169.2:p.Gly255GlnfsTer33 | |
| NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAGCAGCA | NP_001158253.1:p.Gly236GlnfsTer33 |