Linked Data
dbSNP Id:
rs1465831553
gnomAD v2:
11-2790319-AC-A
gnomAD v3:
11-2769089-AC-A
gnomAD v4:
11-2769089-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2769093del , CM000673.2:g.2769093del | GRCh38 |
| NC_000011.9:g.2790323del , CM000673.1:g.2790323del | GRCh37 |
| NC_000011.8:g.2746899del | NCBI36 |
| NG_008935.1:g.329103del , LRG_287:g.329103del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1233+174del | ENSP00000434560.2:n.1233+174del | |
| ENST00000646564.2:c.1050+174del | ENSP00000495806.2:n.1050+174del | |
| ENST00000155840.12:c.1590+174del MANE Select | ENSP00000155840.2:n.1590+174del | |
| ENST00000335475.6:c.1209+174del | ENSP00000334497.5:n.1209+174del | |
| ENST00000646564.1:c.696+174del | ENSP00000495806.1:n.696+174del | |
| ENST00000155840.9:c.1590+174del | ENSP00000155840.2:n.1590+174del | |
| ENST00000335475.5:c.1209+174del | ENSP00000334497.5:n.1209+174del | |
| NM_000218.2:c.1590+174del , LRG_287t1:c.1590+174del | NP_000209.2:n.1590+174del | |
| NM_181798.1:c.1209+174del , LRG_287t2:c.1209+174del | NP_861463.1:n.1209+174del | |
| NM_000218.3:c.1590+174del MANE Select | NP_000209.2:n.1590+174del |