Linked Data
ClinVar Variation Id:
268119
ClinVar RCV Id:
RCV000258817
dbSNP Id:
rs886041062
MyVariant Identifiers:
chr1:g.156563813_156563816delinsA (hg19)
chr1:g.156594021_156594024delinsA (hg38)
PubMed:
PMID:27616477
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156594021_156594024delinsA , CM000663.2:g.156594021_156594024delinsA | GRCh38 |
| NC_000001.10:g.156563813_156563816delinsA , CM000663.1:g.156563813_156563816delinsA | GRCh37 |
| NC_000001.9:g.154830437_154830440delinsA | NCBI36 |
| NG_052542.1:g.7256_7259delinsA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368235.8:c.804_807delinsA MANE Select | ENSP00000357218.3:p.Lys269del | |
| ENST00000467374.2:n.1977_1980delinsA | ||
| ENST00000679369.1:c.553+466_553+469delinsA | ENSP00000505883.1:n.553+466_553+469delinsA | |
| ENST00000679649.1:n.843_846delinsA | ||
| ENST00000679702.1:c.804_807delinsA | ENSP00000505913.1:p.Lys269del | |
| ENST00000679913.1:n.1008_1011delinsA | ||
| ENST00000680004.1:c.804_807delinsA | ENSP00000506275.1:p.Lys269del | |
| ENST00000680087.1:c.664+466_664+469delinsA | ENSP00000505907.1:n.664+466_664+469delinsA | |
| ENST00000680269.1:c.804_807delinsA | ENSP00000505899.1:p.Lys269del | |
| ENST00000680529.1:n.988_991delinsA | ||
| ENST00000680661.1:c.664+466_664+469delinsA | ENSP00000505088.1:n.664+466_664+469delinsA | |
| ENST00000681054.1:c.804_807delinsA | ENSP00000506192.1:p.Lys269del | |
| ENST00000681523.1:c.804_807delinsA | ENSP00000505349.1:p.Lys269del | |
| ENST00000681645.1:n.1169_1172delinsA | ||
| ENST00000681734.1:c.741_744delinsA | ENSP00000506177.1:p.Lys248del | |
| ENST00000681825.1:n.1345_1348delinsA | ||
| ENST00000681922.1:n.1580_1583delinsA | ||
| ENST00000368234.7:c.748_751delinsA | ENSP00000357217.3:p.Glu250_Glu251delinsLys | |
| ENST00000368235.7:c.804_807delinsA | ENSP00000357218.3:p.Lys269del | |
| ENST00000488840.1:n.421_424delinsA | ||
| NM_144772.2:c.804_807delinsA | NP_658985.2:p.Lys269del | |
| XM_017000319.2:c.681+449_681+452delinsA | XP_016855808.1:n.681+449_681+452delinsA | |
| NM_144772.3:c.804_807delinsA MANE Select | NP_658985.2:p.Lys269del |