Linked Data
dbSNP Id:
rs1567938006
gnomAD v2:
17-72913421-CG-C
gnomAD v3:
17-74917327-CG-C
gnomAD v4:
17-74917327-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74917328del , CM000679.2:g.74917328del | GRCh38 |
| NC_000017.10:g.72913422del , CM000679.1:g.72913422del | GRCh37 |
| NC_000017.9:g.70425017del | NCBI36 |
| NG_007882.1:g.10930del | |
| NG_007882.2:g.10936del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.*745del MANE Select | ENSP00000480279.1:n.*745del | |
| ENST00000614341.4:c.*745del | ENSP00000480279.1:n.*745del | |
| NM_001282489.2:c.*745del | NP_001269418.1:n.*745del | |
| NM_173477.4:c.*745del | NP_775748.2:n.*745del | |
| XM_011524296.1:c.*745del | XP_011522598.1:n.*745del | |
| XM_011524296.2:c.*745del | XP_011522598.1:n.*745del | |
| NM_173477.5:c.*745del MANE Select | NP_775748.2:n.*745del | |
| NM_001282489.3:c.*745del | NP_001269418.1:n.*745del |