Linked Data
dbSNP Id:
rs1410306068
gnomAD v2:
1-179323573-CAT-C
gnomAD v3:
1-179354438-CAT-C
gnomAD v4:
1-179354438-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179354439_179354440del , CM000663.2:g.179354439_179354440del | GRCh38 |
| NC_000001.10:g.179323574_179323575del , CM000663.1:g.179323574_179323575del | GRCh37 |
| NC_000001.9:g.177590197_177590198del | NCBI36 |
| NG_030638.1:g.65726_65727del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367619.8:c.*798_*799del MANE Select | ENSP00000356591.3:n.*798_*799del | |
| ENST00000367619.7:c.*798_*799del | ENSP00000356591.3:n.*798_*799del | |
| ENST00000539888.5:c.*798_*799del | ENSP00000441356.1:n.*798_*799del | |
| ENST00000540564.5:c.*798_*799del | ENSP00000445315.1:n.*798_*799del | |
| NM_001252511.1:c.*798_*799del | NP_001239440.1:n.*798_*799del | |
| NM_001252512.1:c.*798_*799del | NP_001239441.1:n.*798_*799del | |
| NM_003101.5:c.*798_*799del | NP_003092.4:n.*798_*799del | |
| NR_045530.1:n.2601_2602del | ||
| XM_011509911.1:c.*798_*799del | XP_011508213.1:n.*798_*799del | |
| NM_003101.6:c.*798_*799del MANE Select | NP_003092.4:n.*798_*799del | |
| NR_045530.2:n.2518_2519del | ||
| NM_001252511.2:c.*798_*799del | NP_001239440.1:n.*798_*799del | |
| NM_001252512.2:c.*798_*799del | NP_001239441.1:n.*798_*799del |