Linked Data
dbSNP Id:
rs1970506564
gnomAD v3:
19-45804004-AAAGAAAAG-A
gnomAD v4:
19-45804004-AAAGAAAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804007_45804014del , CM000681.2:g.45804007_45804014del | GRCh38 |
| NC_000019.9:g.46307265_46307272del , CM000681.1:g.46307265_46307272del | GRCh37 |
| NC_000019.8:g.50999105_50999112del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1653+240_1653+247del MANE Select | ENSP00000221538.2:n.1653+240_1653+247del | |
| ENST00000221538.7:c.1653+240_1653+247del | ENSP00000221538.2:n.1653+240_1653+247del | |
| ENST00000597055.1:c.1653+240_1653+247del | ENSP00000472630.1:n.1653+240_1653+247del | |
| ENST00000600188.5:c.861+240_861+247del | ENSP00000471559.1:n.861+240_861+247del | |
| NM_030785.3:c.1653+240_1653+247del | NP_110412.1:n.1653+240_1653+247del | |
| XM_011527351.1:c.1653+240_1653+247del | XP_011525653.1:n.1653+240_1653+247del | |
| XM_011527351.2:c.1653+240_1653+247del | XP_011525653.1:n.1653+240_1653+247del | |
| NM_030785.4:c.1653+240_1653+247del MANE Select | NP_110412.1:n.1653+240_1653+247del |