Linked Data
ClinVar Variation Id:
424874
ClinVar RCV Id:
RCV000488304
dbSNP Id:
rs1064797096
PubMed:
PMID:27808407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141524179_141524180del , CM000667.2:g.141524179_141524180del | GRCh38 |
| NC_000005.9:g.140903746_140903747del , CM000667.1:g.140903746_140903747del | GRCh37 |
| NC_000005.8:g.140883930_140883931del | NCBI36 |
| NG_011594.1:g.99876_99877del | |
| NG_011594.2:g.99876_99877del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389054.8:c.3624_3625del MANE Select | ENSP00000373706.4:p.Ala1210SerfsTer? | |
| ENST00000448451.6:c.30_31del | ENSP00000408159.2:p.Ala12SerfsTer? | |
| ENST00000643312.1:c.30_31del | ENSP00000495191.1:p.Ala12SerfsTer? | |
| ENST00000643718.1:n.104_105del | ||
| ENST00000647433.1:c.3624_3625del | ENSP00000494675.1:p.Ala1210SerfsTer27 | |
| ENST00000253811.10:c.3492_3493del | ENSP00000253811.7:p.Ala1166SerfsTer? | |
| ENST00000389054.7:c.3624_3625del | ENSP00000373706.4:p.Ala1210SerfsTer? | |
| ENST00000389057.9:c.3597_3598del | ENSP00000373709.6:p.Ala1201SerfsTer? | |
| ENST00000398557.8:c.3624_3625del | ENSP00000381565.5:p.Ala1210SerfsTer? | |
| ENST00000448451.5:c.160_161del | ||
| ENST00000468119.3:n.145_146del | ||
| ENST00000476339.1:n.576_577del | ||
| ENST00000518047.5:c.3597_3598del | ENSP00000428268.2:p.Ala1201SerfsTer? | |
| NM_001079812.2:c.3597_3598del | NP_001073280.1:p.Ala1201SerfsTer? | |
| NM_001314007.1:c.3624_3625del | NP_001300936.1:p.Ala1210SerfsTer27 | |
| NM_005219.4:c.3624_3625del | NP_005210.3:p.Ala1210SerfsTer? | |
| XM_011537572.1:c.3588_3589del | XP_011535874.1:p.Ala1198SerfsTer? | |
| XM_011537573.1:c.3558_3559del | XP_011535875.1:p.Ala1188SerfsTer? | |
| XM_024454384.1:c.3747_3748del | XP_024310152.1:p.Ala1251SerfsTer? | |
| XM_024454385.1:c.3720_3721del | XP_024310153.1:p.Ala1242SerfsTer? | |
| XM_024454386.1:c.3711_3712del | XP_024310154.1:p.Ala1239SerfsTer? | |
| XM_024454387.1:c.3681_3682del | XP_024310155.1:p.Ala1229SerfsTer? | |
| NM_005219.5:c.3624_3625del MANE Select | NP_005210.3:p.Ala1210SerfsTer? | |
| NM_001079812.3:c.3597_3598del | NP_001073280.1:p.Ala1201SerfsTer? | |
| NM_001314007.2:c.3624_3625del | NP_001300936.1:p.Ala1210SerfsTer27 |