Linked Data
dbSNP Id:
rs797044680
gnomAD v2:
19-12759983-GC-G
gnomAD v3:
19-12649169-GC-G
gnomAD v4:
19-12649169-GC-G
COSMIC:
COSM2816112
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12649175del , CM000681.2:g.12649175del | GRCh38 |
| NC_000019.9:g.12759989del , CM000681.1:g.12759989del | GRCh37 |
| NC_000019.8:g.12620989del | NCBI36 |
| NG_008318.1:g.22608del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2402del MANE Select | ENSP00000395473.2:p.Gly801AlafsTer4 | |
| ENST00000221363.8:c.2399del | ENSP00000221363.4:p.Gly800AlafsTer4 | |
| ENST00000456935.6:c.2402del | ENSP00000395473.2:p.Gly801AlafsTer4 | |
| ENST00000466794.5:n.2992del | ||
| NM_000528.3:c.2402del | NP_000519.2:p.Gly801AlafsTer4 | |
| NM_001173498.1:c.2399del | NP_001166969.1:p.Gly800AlafsTer4 | |
| XM_005259913.1:c.2405del | XP_005259970.1:p.Gly802AlafsTer4 | |
| XM_011528017.1:c.1301del | XP_011526319.1:p.Gly434AlafsTer4 | |
| XM_005259913.2:c.2405del | XP_005259970.1:p.Gly802AlafsTer4 | |
| XM_024451518.1:c.1301del | XP_024307286.1:p.Gly434AlafsTer4 | |
| NM_000528.4:c.2402del MANE Select | NP_000519.2:p.Gly801AlafsTer4 | |
| NM_001173498.2:c.2399del | NP_001166969.1:p.Gly800AlafsTer4 |