Linked Data
ClinVar Variation Id:
185492
dbSNP Id:
rs786202216
MyVariant Identifiers:
chr5:g.112179538_112179539delinsTA (hg19)
chr5:g.112843841_112843842delinsTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843841_112843842delinsTA , CM000667.2:g.112843841_112843842delinsTA | GRCh38 |
| NC_000005.9:g.112179538_112179539delinsTA , CM000667.1:g.112179538_112179539delinsTA | GRCh37 |
| NC_000005.8:g.112207437_112207438delinsTA | NCBI36 |
| NG_008481.4:g.156321_156322delinsTA , LRG_130:g.156321_156322delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8301_8302delinsTA | ENSP00000473355.2:p.Glu2768Lys | |
| ENST00000505350.2:c.*8253_*8254delinsTA | ENSP00000481752.1:n.*8253_*8254delinsTA | |
| ENST00000507379.6:c.8193_8194delinsTA | ENSP00000423224.2:p.Glu2732Lys | |
| ENST00000509732.6:c.8247_8248delinsTA | ENSP00000426541.2:p.Glu2750Lys | |
| ENST00000512211.7:c.8247_8248delinsTA | ENSP00000423828.3:p.Glu2750Lys | |
| ENST00000257430.9:c.8247_8248delinsTA MANE Select | ENSP00000257430.4:p.Glu2750Lys | |
| ENST00000257430.8:c.8247_8248delinsTA | ENSP00000257430.4:p.Glu2750Lys | |
| ENST00000508376.6:c.8247_8248delinsTA | ENSP00000427089.2:p.Glu2750Lys | |
| ENST00000520401.1:c.231-12808_231-12807delinsTA | ||
| NM_000038.5:c.8247_8248delinsTA | NP_000029.2:p.Glu2750Lys | |
| NM_001127510.2:c.8247_8248delinsTA | NP_001120982.1:p.Glu2750Lys | |
| NM_001127511.2:c.8193_8194delinsTA | NP_001120983.2:p.Glu2732Lys | |
| NM_001354895.1:c.8247_8248delinsTA | NP_001341824.1:p.Glu2750Lys | |
| NM_001354896.1:c.8301_8302delinsTA | NP_001341825.1:p.Glu2768Lys | |
| NM_001354897.1:c.8277_8278delinsTA | NP_001341826.1:p.Glu2760Lys | |
| NM_001354898.1:c.8172_8173delinsTA | NP_001341827.1:p.Glu2725Lys | |
| NM_001354899.1:c.8163_8164delinsTA | NP_001341828.1:p.Glu2722Lys | |
| NM_001354900.1:c.8124_8125delinsTA | NP_001341829.1:p.Glu2709Lys | |
| NM_001354901.1:c.8070_8071delinsTA | NP_001341830.1:p.Glu2691Lys | |
| NM_001354902.1:c.7974_7975delinsTA | NP_001341831.1:p.Glu2659Lys | |
| NM_001354903.1:c.7944_7945delinsTA | NP_001341832.1:p.Glu2649Lys | |
| NM_001354904.1:c.7869_7870delinsTA | NP_001341833.1:p.Glu2624Lys | |
| NM_001354905.1:c.7767_7768delinsTA | NP_001341834.1:p.Glu2590Lys | |
| NM_001354906.1:c.7398_7399delinsTA | NP_001341835.1:p.Glu2467Lys | |
| NM_000038.6:c.8247_8248delinsTA MANE Select | NP_000029.2:p.Glu2750Lys | |
| NM_001127510.3:c.8247_8248delinsTA | NP_001120982.1:p.Glu2750Lys | |
| NM_001127511.3:c.8193_8194delinsTA | NP_001120983.2:p.Glu2732Lys | |
| NM_001354895.2:c.8247_8248delinsTA | NP_001341824.1:p.Glu2750Lys | |
| NM_001354896.2:c.8301_8302delinsTA | NP_001341825.1:p.Glu2768Lys | |
| NM_001354897.2:c.8277_8278delinsTA | NP_001341826.1:p.Glu2760Lys | |
| NM_001354898.2:c.8172_8173delinsTA | NP_001341827.1:p.Glu2725Lys | |
| NM_001354899.2:c.8163_8164delinsTA | NP_001341828.1:p.Glu2722Lys | |
| NM_001354900.2:c.8124_8125delinsTA | NP_001341829.1:p.Glu2709Lys | |
| NM_001354901.2:c.8070_8071delinsTA | NP_001341830.1:p.Glu2691Lys | |
| NM_001354902.2:c.7974_7975delinsTA | NP_001341831.1:p.Glu2659Lys | |
| NM_001354903.2:c.7944_7945delinsTA | NP_001341832.1:p.Glu2649Lys | |
| NM_001354904.2:c.7869_7870delinsTA | NP_001341833.1:p.Glu2624Lys | |
| NM_001354905.2:c.7767_7768delinsTA | NP_001341834.1:p.Glu2590Lys | |
| NM_001354906.2:c.7398_7399delinsTA | NP_001341835.1:p.Glu2467Lys |