Linked Data
ClinVar Variation Id:
126734
dbSNP Id:
rs180177135
gnomAD v3:
16-23607890-GT-G
gnomAD v4:
16-23607890-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607891del , CM000678.2:g.23607891del | GRCh38 |
| NC_000016.9:g.23619212del , CM000678.1:g.23619212del | GRCh37 |
| NC_000016.8:g.23526713del | NCBI36 |
| NG_007406.1:g.38467del , LRG_308:g.38467del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.3329del | ENSP00000460666.3:p.Tyr1110SerfsTer16 | |
| ENST00000565038.2:c.*804del | ENSP00000459882.2:n.*804del | |
| ENST00000566069.6:c.3202-4222del | ENSP00000459237.2:n.3202-4222del | |
| ENST00000697377.2:c.3167del | ENSP00000513286.2:p.Tyr1056SerfsTer16 | |
| ENST00000697379.2:c.3329del | ENSP00000513287.2:p.Tyr1110SerfsTer16 | |
| ENST00000561514.2:c.2438del | ENSP00000460666.2:p.Tyr813SerfsTer16 | |
| ENST00000697374.1:c.2438del | ENSP00000513284.1:p.Tyr813SerfsTer16 | |
| ENST00000697375.1:n.4670del | ||
| ENST00000697376.1:c.2317-4222del | ENSP00000513285.1:n.2317-4222del | |
| ENST00000697377.1:c.2276del | ENSP00000513286.1:p.Tyr759SerfsTer16 | |
| ENST00000697378.1:n.3843del | ||
| ENST00000697379.1:c.2438del | ENSP00000513287.1:p.Tyr813SerfsTer16 | |
| ENST00000697380.1:n.2527del | ||
| ENST00000697381.1:n.2018del | ||
| ENST00000697382.1:c.*100del | ENSP00000513288.1:n.*100del | |
| ENST00000697383.1:c.857del | ENSP00000513289.1:p.Tyr286SerfsTer16 | |
| ENST00000261584.9:c.3323del MANE Select | ENSP00000261584.4:p.Tyr1108SerfsTer16 | |
| ENST00000261584.8:c.3323del | ENSP00000261584.4:p.Tyr1108SerfsTer16 | |
| ENST00000566069.5:c.117-4222del | ||
| ENST00000568219.5:c.2438del | ENSP00000454703.2:p.Tyr813SerfsTer16 | |
| NM_024675.3:c.3323del , LRG_308t1:c.3323del | NP_078951.2:p.Tyr1108SerfsTer16 | |
| XM_011545946.1:c.3329del | XP_011544248.1:p.Tyr1110SerfsTer16 | |
| XM_011545947.1:c.3208-4222del | XP_011544249.1:n.3208-4222del | |
| XM_011545948.1:c.2438del | XP_011544250.1:p.Tyr813SerfsTer16 | |
| XR_950851.1:n.4031del | ||
| XM_011545946.2:c.3329del | XP_011544248.1:p.Tyr1110SerfsTer16 | |
| XM_011545947.2:c.3208-4222del | XP_011544249.1:n.3208-4222del | |
| XM_011545948.2:c.2438del | XP_011544250.1:p.Tyr813SerfsTer16 | |
| XM_017023671.1:c.3120-4222del | XP_016879160.1:n.3120-4222del | |
| XM_017023672.2:c.3114-4222del | XP_016879161.1:n.3114-4222del | |
| XM_017023673.2:c.3202-4222del | XP_016879162.1:n.3202-4222del | |
| NM_024675.4:c.3323del MANE Select | NP_078951.2:p.Tyr1108SerfsTer16 |