Linked Data
dbSNP Id:
rs1424805975
gnomAD v2:
1-240541153-AAATT-A
gnomAD v3:
1-240377853-AAATT-A
gnomAD v4:
1-240377853-AAATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240377858_240377861del , CM000663.2:g.240377858_240377861del | GRCh38 |
| NC_000001.10:g.240541158_240541161del , CM000663.1:g.240541158_240541161del | GRCh37 |
| NC_000001.9:g.238607781_238607784del | NCBI36 |
| NG_042054.1:g.290974_290977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319653.14:c.4859-14653_4859-14650del MANE Select | ENSP00000318884.9:n.4859-14653_4859-14650del | |
| ENST00000545751.3:c.700-14653_700-14650del | ||
| ENST00000679390.1:n.1121-14653_1121-14650del | ||
| ENST00000679646.1:n.4325-14653_4325-14650del | ||
| ENST00000679980.1:c.1128-14653_1128-14650del | ||
| ENST00000681131.1:c.859-14653_859-14650del | ||
| ENST00000681210.1:c.1079-14653_1079-14650del | ENSP00000505131.1:n.1079-14653_1079-14650del | |
| ENST00000681296.1:n.2046-14653_2046-14650del | ||
| ENST00000681741.1:c.*903-14653_*903-14650del | ENSP00000505116.1:n.*903-14653_*903-14650del | |
| ENST00000681805.1:c.744-14653_744-14650del | ||
| ENST00000681824.1:c.986-14653_986-14650del | ENSP00000505818.1:n.986-14653_986-14650del | |
| ENST00000319653.13:c.4859-14653_4859-14650del | ENSP00000318884.9:n.4859-14653_4859-14650del | |
| ENST00000545751.2:c.287-14653_287-14650del | ENSP00000437918.2:n.287-14653_287-14650del | |
| NM_001305424.1:c.4871-14653_4871-14650del | NP_001292353.1:n.4871-14653_4871-14650del | |
| NM_020066.4:c.4859-14653_4859-14650del | NP_064450.3:n.4859-14653_4859-14650del | |
| NM_001348094.1:c.2687-14653_2687-14650del | NP_001335023.1:n.2687-14653_2687-14650del | |
| XM_017001840.2:c.2999-14653_2999-14650del | XP_016857329.1:n.2999-14653_2999-14650del | |
| XM_017001841.2:c.2999-14653_2999-14650del | XP_016857330.1:n.2999-14653_2999-14650del | |
| NM_020066.5:c.4859-14653_4859-14650del MANE Select | NP_064450.3:n.4859-14653_4859-14650del | |
| NM_001305424.2:c.4871-14653_4871-14650del | NP_001292353.1:n.4871-14653_4871-14650del | |
| NM_001348094.2:c.2687-14653_2687-14650del | NP_001335023.1:n.2687-14653_2687-14650del |