Linked Data
ClinVar Variation Id:
2629766
ClinVar RCV Id:
RCV003391258
dbSNP Id:
rs1273307565
gnomAD v3:
2-120978461-GAGA-G
gnomAD v4:
2-120978461-GAGA-G
COSMIC:
COSM5353817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120978467_120978469del , CM000664.2:g.120978467_120978469del | GRCh38 |
| NC_000002.11:g.121736043_121736045del , CM000664.1:g.121736043_121736045del | GRCh37 |
| NC_000002.10:g.121452513_121452515del | NCBI36 |
| NG_009030.1:g.186177_186179del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.1351_1353del MANE Select | ENSP00000354586.5:p.Lys451del | |
| ENST00000452319.6:c.1402_1404del | ENSP00000390436.1:p.Lys468del | |
| ENST00000314490.15:c.415_417del | ENSP00000312694.12:p.Lys139del | |
| ENST00000341310.10:c.*450_*452del | ENSP00000344473.6:n.*450_*452del | |
| ENST00000361492.8:c.1402_1404del | ENSP00000354586.4:p.Lys468del | |
| ENST00000435313.6:n.1376_1378del | ||
| ENST00000437950.5:c.*501_*503del | ENSP00000415773.1:n.*501_*503del | |
| ENST00000438299.5:c.*501_*503del | ENSP00000400593.1:n.*501_*503del | |
| ENST00000445186.5:c.*501_*503del | ENSP00000397488.1:n.*501_*503del | |
| ENST00000452319.5:c.1402_1404del | ENSP00000390436.1:p.Lys468del | |
| ENST00000452692.5:c.*450_*452del | ENSP00000403715.1:n.*450_*452del | |
| NM_005270.4:c.1402_1404del | NP_005261.2:p.Lys468del | |
| XM_006712422.1:c.1351_1353del | XP_006712485.1:p.Lys451del | |
| XM_011510969.1:c.1384_1386del | XP_011509271.1:p.Lys462del | |
| XM_011510970.1:c.1261_1263del | XP_011509272.1:p.Lys421del | |
| XM_011510971.1:c.1207_1209del | XP_011509273.1:p.Lys403del | |
| XM_011510972.1:c.1207_1209del | XP_011509274.1:p.Lys403del | |
| XM_011510973.1:c.1027_1029del | XP_011509275.1:p.Lys343del | |
| XM_011510974.1:c.976_978del | XP_011509276.1:p.Lys326del | |
| XM_006712422.3:c.1351_1353del | XP_006712485.1:p.Lys451del | |
| XM_011510969.2:c.1654_1656del | XP_011509271.2:p.Lys552del | |
| XM_011510970.2:c.1261_1263del | XP_011509272.1:p.Lys421del | |
| XM_011510971.2:c.1207_1209del | XP_011509273.1:p.Lys403del | |
| XM_011510972.2:c.1303_1305del | XP_011509274.2:p.Lys435del | |
| XM_011510973.2:c.1027_1029del | XP_011509275.1:p.Lys343del | |
| XM_011510974.2:c.976_978del | XP_011509276.1:p.Lys326del | |
| XM_017003818.1:c.1603_1605del | XP_016859307.1:p.Lys535del | |
| XM_024452794.1:c.1402_1404del | XP_024308562.1:p.Lys468del | |
| XM_024452795.1:c.1402_1404del | XP_024308563.1:p.Lys468del | |
| NM_001371271.1:c.1402_1404del | NP_001358200.1:p.Lys468del | |
| NM_001374353.1:c.1351_1353del MANE Select | NP_001361282.1:p.Lys451del | |
| NM_001374354.1:c.976_978del | NP_001361283.1:p.Lys326del | |
| NM_005270.5:c.1402_1404del | NP_005261.2:p.Lys468del |