Linked Data
dbSNP Id:
rs1320741559
gnomAD v2:
10-63747704-GA-G
gnomAD v3:
10-61987945-GA-G
gnomAD v4:
10-61987945-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61987949del , CM000672.2:g.61987949del | GRCh38 |
| NC_000010.10:g.63747708del , CM000672.1:g.63747708del | GRCh37 |
| NC_000010.9:g.63417714del | NCBI36 |
| NG_030027.1:g.91696del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000279873.12:c.503-12142del MANE Select | ENSP00000279873.7:n.503-12142del | |
| ENST00000644638.1:c.503-12142del | ENSP00000494412.1:n.503-12142del | |
| ENST00000681100.1:c.503-12142del | ENSP00000506119.1:n.503-12142del | |
| ENST00000279873.11:c.503-12142del | ENSP00000279873.7:n.503-12142del | |
| NM_032199.2:c.503-12142del | NP_115575.1:n.503-12142del | |
| XM_011540262.1:c.502+47541del | XP_011538564.1:n.502+47541del | |
| XM_024448230.1:c.-65-12142del | XP_024303998.1:n.-65-12142del | |
| NM_032199.3:c.503-12142del MANE Select | NP_115575.1:n.503-12142del |