Linked Data
ClinVar Variation Id:
1576452
ClinVar RCV Id:
RCV002078357
dbSNP Id:
rs1351166844
gnomAD v2:
X-41204425-CAT-C
gnomAD v3:
X-41345172-CAT-C
gnomAD v4:
X-41345172-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41345173_41345174del , CM000685.2:g.41345173_41345174del | GRCh38 |
| NC_000023.10:g.41204426_41204427del , CM000685.1:g.41204426_41204427del | GRCh37 |
| NC_000023.9:g.41089370_41089371del | NCBI36 |
| NG_012830.1:g.16776_16777del | |
| NG_012830.2:g.16776_16777del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1158-7_1158-6del | ENSP00000496052.2:n.1158-7_1158-6del | |
| ENST00000399959.7:c.1023-7_1023-6del | ENSP00000382840.3:n.1023-7_1023-6del | |
| ENST00000441189.4:c.927-7_927-6del | ENSP00000414281.3:n.927-7_927-6del | |
| ENST00000457138.7:c.978-7_978-6del | ENSP00000392494.2:n.978-7_978-6del | |
| ENST00000629496.3:c.1026-7_1026-6del | ENSP00000487224.1:n.1026-7_1026-6del | |
| ENST00000642161.1:n.3225-7_3225-6del | ||
| ENST00000642322.1:c.468-7_468-6del | ENSP00000496052.1:n.468-7_468-6del | |
| ENST00000642424.1:c.468-7_468-6del | ENSP00000496356.1:n.468-7_468-6del | |
| ENST00000642589.1:n.4348-7_4348-6del | ||
| ENST00000642597.1:n.1200-7_1200-6del | ||
| ENST00000642687.1:n.1059-7_1059-6del | ||
| ENST00000642722.1:n.1859-7_1859-6del | ||
| ENST00000642763.1:n.1917-7_1917-6del | ||
| ENST00000642793.1:c.*475-7_*475-6del | ENSP00000493976.1:n.*475-7_*475-6del | |
| ENST00000642801.1:n.675-7_675-6del | ||
| ENST00000643820.1:n.302-7_302-6del | ||
| ENST00000643963.1:c.*308-7_*308-6del | ENSP00000495264.1:n.*308-7_*308-6del | |
| ENST00000644073.1:c.984-7_984-6del | ENSP00000493475.1:n.984-7_984-6del | |
| ENST00000644074.1:c.1023-7_1023-6del | ENSP00000496663.1:n.1023-7_1023-6del | |
| ENST00000644109.1:c.1188-7_1188-6del | ENSP00000494952.1:n.1188-7_1188-6del | |
| ENST00000644307.1:n.1117-7_1117-6del | ||
| ENST00000644513.1:c.1026-7_1026-6del | ENSP00000493819.1:n.1026-7_1026-6del | |
| ENST00000644677.1:c.909-7_909-6del | ENSP00000496524.1:n.909-7_909-6del | |
| ENST00000644876.2:c.1026-7_1026-6del MANE Select | ENSP00000494040.1:n.1026-7_1026-6del | |
| ENST00000644958.1:n.2687-7_2687-6del | ||
| ENST00000645080.1:c.*2248-7_*2248-6del | ENSP00000494767.1:n.*2248-7_*2248-6del | |
| ENST00000645120.1:n.2521-7_2521-6del | ||
| ENST00000645338.1:n.1117-7_1117-6del | ||
| ENST00000645380.1:n.2411-7_2411-6del | ||
| ENST00000645561.1:n.2202-7_2202-6del | ||
| ENST00000645574.1:n.3890-7_3890-6del | ||
| ENST00000645589.1:c.1026-7_1026-6del | ENSP00000494588.1:n.1026-7_1026-6del | |
| ENST00000646093.1:n.210-7_210-6del | ||
| ENST00000646107.1:c.909-7_909-6del | ENSP00000494518.1:n.909-7_909-6del | |
| ENST00000646122.1:c.1026-7_1026-6del | ENSP00000496222.1:n.1026-7_1026-6del | |
| ENST00000646196.1:n.1995-7_1995-6del | ||
| ENST00000646223.1:c.*1019-7_*1019-6del | ENSP00000496043.1:n.*1019-7_*1019-6del | |
| ENST00000646319.1:c.1026-7_1026-6del | ENSP00000495377.1:n.1026-7_1026-6del | |
| ENST00000646390.1:n.3314-7_3314-6del | ||
| ENST00000646627.1:c.468-7_468-6del | ENSP00000493795.1:n.468-7_468-6del | |
| ENST00000646679.1:c.468-7_468-6del | ENSP00000494887.1:n.468-7_468-6del | |
| ENST00000646822.1:n.2088-7_2088-6del | ||
| ENST00000646940.1:n.1200-7_1200-6del | ||
| ENST00000647286.1:n.1124-7_1124-6del | ||
| ENST00000399959.6:c.1026-7_1026-6del | ENSP00000382840.2:n.1026-7_1026-6del | |
| ENST00000441189.3:c.341-2467_341-2466del | ENSP00000414281.2:n.341-2467_341-2466del | |
| ENST00000457138.6:c.978-7_978-6del | ENSP00000392494.2:n.978-7_978-6del | |
| ENST00000478993.5:c.1026-7_1026-6del | ENSP00000478443.1:n.1026-7_1026-6del | |
| ENST00000542215.5:n.1074-7_1074-6del | ||
| ENST00000625837.2:c.1026-7_1026-6del | ENSP00000486306.1:n.1026-7_1026-6del | |
| ENST00000626301.2:c.1026-7_1026-6del | ENSP00000486443.1:n.1026-7_1026-6del | |
| ENST00000629496.2:c.1026-7_1026-6del | ENSP00000487224.1:n.1026-7_1026-6del | |
| ENST00000629785.2:c.1026-7_1026-6del | ENSP00000486516.1:n.1026-7_1026-6del | |
| ENST00000630255.2:c.1026-7_1026-6del | ENSP00000486720.1:n.1026-7_1026-6del | |
| ENST00000630370.2:c.1026-7_1026-6del | ENSP00000487062.1:n.1026-7_1026-6del | |
| ENST00000630858.2:c.1026-7_1026-6del | ENSP00000486514.1:n.1026-7_1026-6del | |
| NM_001193416.2:c.1026-7_1026-6del | NP_001180345.1:n.1026-7_1026-6del | |
| NM_001193417.2:c.978-7_978-6del | NP_001180346.1:n.978-7_978-6del | |
| NM_001356.4:c.1026-7_1026-6del | NP_001347.3:n.1026-7_1026-6del | |
| NR_126093.1:n.1971-7_1971-6del | ||
| XM_011543892.1:c.1026-7_1026-6del | XP_011542194.1:n.1026-7_1026-6del | |
| NM_001363819.1:c.468-7_468-6del | NP_001350748.1:n.468-7_468-6del | |
| XM_011543892.2:c.1026-7_1026-6del | XP_011542194.1:n.1026-7_1026-6del | |
| XM_017029313.1:c.468-7_468-6del | XP_016884802.1:n.468-7_468-6del | |
| NM_001193416.3:c.1026-7_1026-6del | NP_001180345.1:n.1026-7_1026-6del | |
| NM_001193417.3:c.978-7_978-6del | NP_001180346.1:n.978-7_978-6del | |
| NM_001356.5:c.1026-7_1026-6del MANE Select | NP_001347.3:n.1026-7_1026-6del |