Linked Data
ClinVar Variation Id:
4302
ClinVar RCV Id:
RCV002476926
dbSNP Id:
rs387906315
ExAC:
1:155210451 G / GC
gnomAD v2:
1-155210451-G-GC
gnomAD v3:
1-155240660-G-GC
gnomAD v4:
1-155240660-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155240661dup , CM000663.2:g.155240661dup | GRCh38 |
| NC_000001.10:g.155210452dup , CM000663.1:g.155210452dup | GRCh37 |
| NC_000001.9:g.153477076dup | NCBI36 |
| NG_009783.1:g.9037dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368373.8:c.84dup MANE Select | ENSP00000357357.3:p.Leu29AlafsTer18 | |
| ENST00000327247.9:c.84dup | ENSP00000314508.5:p.Leu29AlafsTer18 | |
| ENST00000368373.7:c.84dup | ENSP00000357357.3:p.Leu29AlafsTer18 | |
| ENST00000427500.7:c.84dup | ENSP00000402577.2:p.Leu29AlafsTer18 | |
| ENST00000428024.3:c.-146-584dup | ENSP00000397986.2:n.-146-584dup | |
| ENST00000467918.5:n.389dup | ||
| ENST00000470104.1:n.215dup | ||
| ENST00000473570.5:n.405dup | ||
| ENST00000484489.5:n.203dup | ||
| ENST00000493842.5:n.422dup | ||
| NM_000157.3:c.84dup | NP_000148.2:p.Leu29AlafsTer18 | |
| NM_001005741.2:c.84dup | NP_001005741.1:p.Leu29AlafsTer18 | |
| NM_001005742.2:c.84dup | NP_001005742.1:p.Leu29AlafsTer18 | |
| NM_001171811.1:c.-146-584dup | NP_001165282.1:n.-146-584dup | |
| NM_001171812.1:c.84dup | NP_001165283.1:p.Leu29AlafsTer18 | |
| XM_006711270.1:c.84dup | XP_006711333.1:p.Leu29AlafsTer18 | |
| XM_011509407.1:c.84dup | XP_011507709.1:p.Leu29AlafsTer18 | |
| NM_000157.4:c.84dup MANE Select | NP_000148.2:p.Leu29AlafsTer18 | |
| NM_001005741.3:c.84dup | NP_001005741.1:p.Leu29AlafsTer18 | |
| NM_001005742.3:c.84dup | NP_001005742.1:p.Leu29AlafsTer18 | |
| NM_001171811.2:c.-146-584dup | NP_001165282.1:n.-146-584dup | |
| NM_001171812.2:c.84dup | NP_001165283.1:p.Leu29AlafsTer18 |