Linked Data
dbSNP Id:
rs950137891
gnomAD v2:
17-29325656-ATTG-A
gnomAD v3:
17-30998638-ATTG-A
gnomAD v4:
17-30998638-ATTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30998641_30998643del , CM000679.2:g.30998641_30998643del | GRCh38 |
| NC_000017.10:g.29325659_29325661del , CM000679.1:g.29325659_29325661del | GRCh37 |
| NC_000017.9:g.26349785_26349787del | NCBI36 |
| NG_011701.1:g.32704_32706del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328381.10:c.770-21_770-19del MANE Select | ENSP00000328340.5:n.770-21_770-19del | |
| ENST00000324689.8:c.607-21_607-19del | ENSP00000323693.4:n.607-21_607-19del | |
| ENST00000328381.9:c.770-21_770-19del | ENSP00000328340.5:n.770-21_770-19del | |
| ENST00000443677.6:c.463-21_463-19del | ENSP00000411965.2:n.463-21_463-19del | |
| ENST00000535306.6:c.835-21_835-19del | ENSP00000440470.2:n.835-21_835-19del | |
| NM_001184992.1:c.835-21_835-19del | NP_001171921.1:n.835-21_835-19del | |
| NM_032322.3:c.770-21_770-19del | NP_115698.3:n.770-21_770-19del | |
| NM_197939.1:c.607-21_607-19del | NP_922921.1:n.607-21_607-19del | |
| XM_005258043.3:c.227-21_227-19del | XP_005258100.1:n.227-21_227-19del | |
| XM_006722138.2:c.449-21_449-19del | XP_006722201.1:n.449-21_449-19del | |
| XM_017025223.1:c.227-21_227-19del | XP_016880712.1:n.227-21_227-19del | |
| XM_024451000.1:c.227-21_227-19del | XP_024306768.1:n.227-21_227-19del | |
| XM_024451001.1:c.227-21_227-19del | XP_024306769.1:n.227-21_227-19del | |
| XR_002958076.1:n.1103-21_1103-19del | ||
| XR_002958077.1:n.1038-21_1038-19del | ||
| XR_002958078.1:n.875-21_875-19del | ||
| NM_032322.4:c.770-21_770-19del MANE Select | NP_115698.3:n.770-21_770-19del | |
| NM_001184992.2:c.835-21_835-19del | NP_001171921.1:n.835-21_835-19del | |
| NM_197939.2:c.607-21_607-19del | NP_922921.1:n.607-21_607-19del |