Linked Data
ClinVar Variation Id:
187903
ClinVar RCV Id:
RCV000167623
dbSNP Id:
rs786204035
MyVariant Identifiers:
chr1:g.11850910_11850911delinsAC (hg19)
chr1:g.11790853_11790854delinsAC (hg38)
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11790853_11790854delinsAC , CM000663.2:g.11790853_11790854delinsAC | GRCh38 |
| NC_000001.10:g.11850910_11850911delinsAC , CM000663.1:g.11850910_11850911delinsAC | GRCh37 |
| NC_000001.9:g.11773497_11773498delinsAC | NCBI36 |
| NG_013351.1:g.20250_20251delinsGT , LRG_726:g.20250_20251delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376585.6:c.1920_1921delinsGT | ENSP00000365770.1:p.Tyr640Ter | |
| ENST00000376590.9:c.1797_1798delinsGT MANE Select | ENSP00000365775.3:p.Tyr599Ter | |
| ENST00000376592.6:c.1797_1798delinsGT | ENSP00000365777.1:p.Tyr599Ter | |
| ENST00000423400.7:c.1917_1918delinsGT | ENSP00000398908.3:p.Tyr639Ter | |
| ENST00000641407.1:c.1753-138_1753-137delinsGT | ENSP00000493098.1:n.1753-138_1753-137deli... | |
| ENST00000641446.1:c.*256_*257delinsGT | ENSP00000493262.1:n.*256_*257delinsGT | |
| ENST00000641747.1:c.*1309_*1310delinsGT | ENSP00000493116.1:n.*1309_*1310delinsGT | |
| ENST00000641759.1:n.2166_2167delinsGT | ||
| ENST00000641805.1:n.2270-138_2270-137delinsGT | ||
| ENST00000641820.1:c.1062_1063delinsGT | ENSP00000492937.1:p.Tyr354Ter | |
| ENST00000376583.7:c.1920_1921delinsGT | ENSP00000365767.3:p.Tyr640Ter | |
| ENST00000376585.5:c.1920_1921delinsGT | ENSP00000365770.1:p.Tyr640Ter | |
| ENST00000376590.7:c.1797_1798delinsGT | ENSP00000365775.3:p.Tyr599Ter | |
| ENST00000376592.5:c.1797_1798delinsGT | ENSP00000365777.1:p.Tyr599Ter | |
| NM_005957.4:c.1797_1798delinsGT , LRG_726t1:c.1797_1798delinsGT | NP_005948.3:p.Tyr599Ter | |
| XM_005263458.2:c.1920_1921delinsGT | XP_005263515.1:p.Tyr640Ter | |
| XM_005263460.3:c.1797_1798delinsGT | XP_005263517.1:p.Tyr599Ter | |
| XM_005263461.3:c.1797_1798delinsGT | XP_005263518.1:p.Tyr599Ter | |
| XM_005263462.3:c.1797_1798delinsGT | XP_005263519.1:p.Tyr599Ter | |
| XM_005263463.2:c.1551_1552delinsGT | XP_005263520.1:p.Tyr517Ter | |
| XM_011541495.1:c.1917_1918delinsGT | XP_011539797.1:p.Tyr639Ter | |
| XM_011541496.1:c.1876-138_1876-137delinsGT | XP_011539798.1:n.1876-138_1876-137delinsG... | |
| NM_001330358.1:c.1920_1921delinsGT | NP_001317287.1:p.Tyr640Ter | |
| XM_005263460.5:c.1797_1798delinsGT | XP_005263517.1:p.Tyr599Ter | |
| XM_005263462.4:c.1797_1798delinsGT | XP_005263519.1:p.Tyr599Ter | |
| XM_005263463.4:c.1551_1552delinsGT | XP_005263520.1:p.Tyr517Ter | |
| XM_011541495.3:c.1917_1918delinsGT | XP_011539797.1:p.Tyr639Ter | |
| XM_011541496.3:c.1876-138_1876-137delinsGT | XP_011539798.1:n.1876-138_1876-137delinsG... | |
| XM_017001328.2:c.1876-106_1876-105delinsGT | XP_016856817.1:n.1876-106_1876-105delinsG... | |
| XM_024447198.1:c.1551_1552delinsGT | XP_024302966.1:p.Tyr517Ter | |
| XR_002956640.1:n.2854-138_2854-137delinsGT | ||
| NM_005957.5:c.1797_1798delinsGT MANE Select | NP_005948.3:p.Tyr599Ter | |
| NM_001330358.2:c.1920_1921delinsGT | NP_001317287.1:p.Tyr640Ter |