Linked Data
dbSNP Id:
rs1334085968
gnomAD v2:
1-15772484-TTCAC-T
gnomAD v3:
1-15445989-TTCAC-T
gnomAD v4:
1-15445989-TTCAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445993_15445996del , CM000663.2:g.15445993_15445996del | GRCh38 |
| NC_000001.10:g.15772488_15772491del , CM000663.1:g.15772488_15772491del | GRCh37 |
| NC_000001.9:g.15645075_15645078del | NCBI36 |
| NG_009253.1:g.12551_12554del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.792+244_792+247del MANE Select | ENSP00000365116.4:n.792+244_792+247del | |
| ENST00000375943.6:c.*246+244_*246+247del | ENSP00000365110.2:n.*246+244_*246+247del | |
| ENST00000375949.4:c.792+244_792+247del | ENSP00000365116.4:n.792+244_792+247del | |
| ENST00000483406.1:n.556+244_556+247del | ||
| NM_007272.2:c.792+244_792+247del | NP_009203.2:n.792+244_792+247del | |
| XM_011540550.1:c.646+244_646+247del | XP_011538852.1:n.646+244_646+247del | |
| NM_007272.3:c.792+244_792+247del MANE Select | NP_009203.2:n.792+244_792+247del |