Linked Data
ClinVar Variation Id:
553087
ClinVar RCV Id:
RCV000668463
dbSNP Id:
rs1554375280
MyVariant Identifiers:
chr7:g.92517394_92517414del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517400_92517420del , CM000669.2:g.92517400_92517420del | GRCh38 |
| NC_000007.13:g.92146714_92146734del , CM000669.1:g.92146714_92146734del | GRCh37 |
| NC_000007.12:g.91984650_91984670del | NCBI36 |
| NG_008341.1:g.16118_16138del | |
| NG_008341.2:g.16118_16138del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1101_1121del MANE Select | ENSP00000248633.4:p.Gln367_Asp373del | |
| ENST00000248633.8:c.1101_1121del | ENSP00000248633.4:p.Gln367_Asp373del | |
| ENST00000428214.5:c.1101_1121del | ENSP00000394413.1:p.Gln367_Asp373del | |
| ENST00000438045.5:c.274-3447_274-3427del | ENSP00000410438.1:n.274-3447_274-3427del | |
| ENST00000484913.5:n.1140_1160del | ||
| NM_000466.2:c.1101_1121del | NP_000457.1:p.Gln367_Asp373del | |
| NM_001282677.1:c.1101_1121del | NP_001269606.1:p.Gln367_Asp373del | |
| NM_001282678.1:c.477_497del | NP_001269607.1:p.Gln159_Asp165del | |
| XR_242246.3:n.1197_1217del | ||
| XM_017012319.2:c.-566_-546del | XP_016867808.1:n.-566_-546del | |
| XR_001744808.2:n.211_231del | ||
| XR_242246.5:n.1148_1168del | ||
| NM_000466.3:c.1101_1121del MANE Select | NP_000457.1:p.Gln367_Asp373del | |
| NM_001282677.2:c.1101_1121del | NP_001269606.1:p.Gln367_Asp373del | |
| NM_001282678.2:c.477_497del | NP_001269607.1:p.Gln159_Asp165del |