Linked Data
dbSNP Id:
rs963131090
gnomAD v2:
1-172633277-TA-T
gnomAD v3:
1-172664137-TA-T
gnomAD v4:
1-172664137-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172664138del , CM000663.2:g.172664138del | GRCh38 |
| NC_000001.10:g.172633278del , CM000663.1:g.172633278del | GRCh37 |
| NC_000001.9:g.170899901del | NCBI36 |
| NG_007269.1:g.10094del , LRG_58:g.10094del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.395-196del MANE Select | ENSP00000356694.2:n.395-196del | |
| ENST00000340030.4:c.349-196del | ENSP00000344739.3:n.349-196del | |
| ENST00000367721.2:c.395-196del | ENSP00000356694.2:n.395-196del | |
| NM_000639.2:c.395-196del | NP_000630.1:n.395-196del | |
| NM_001302746.1:c.349-196del | NP_001289675.1:n.349-196del | |
| NM_000639.3:c.395-196del MANE Select | NP_000630.1:n.395-196del | |
| NM_001302746.2:c.349-196del | NP_001289675.1:n.349-196del |