Linked Data
ClinVar Variation Id:
5395
ClinVar RCV Id:
RCV000005726
dbSNP Id:
rs606231159
gnomAD v4:
19-40622646-CA-C
PubMed:
PMID:19836010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40622647del , CM000681.2:g.40622647del | GRCh38 |
| NC_000019.9:g.41128552del , CM000681.1:g.41128552del | GRCh37 |
| NC_000019.8:g.45820392del | NCBI36 |
| NG_021201.1:g.34482del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396819.8:c.3464del MANE Select | ENSP00000380031.5:p.Gln1155ArgfsTer27 | |
| ENST00000204005.13:c.3554del | ENSP00000204005.10:p.Gln1185ArgfsTer27 | |
| ENST00000243562.13:c.1663del | ||
| ENST00000308370.11:c.3665del | ENSP00000311905.8:p.Gln1222ArgfsTer27 | |
| ENST00000318809.11:n.484-957del | ||
| ENST00000396819.7:c.3464del | ENSP00000380031.4:p.Gln1155ArgfsTer27 | |
| ENST00000593463.5:c.535-957del | ||
| ENST00000594116.1:n.260del | ||
| ENST00000595118.5:n.969del | ||
| ENST00000595665.1:n.535-957del | ||
| ENST00000597816.5:n.453-957del | ||
| ENST00000599724.5:c.485-957del | ENSP00000469785.1:n.485-957del | |
| ENST00000601032.5:c.1101del | ||
| ENST00000622107.4:n.545-957del | ||
| ENST00000622457.1:c.385-957del | ||
| ENST00000622565.4:n.727-957del | ||
| NM_001042544.1:c.3665del | NP_001036009.1:p.Gln1222ArgfsTer27 | |
| NM_001042545.1:c.3464del | NP_001036010.1:p.Gln1155ArgfsTer27 | |
| NM_003573.2:c.3554del | NP_003564.2:p.Gln1185ArgfsTer27 | |
| XM_011527376.1:c.3779del | XP_011525678.1:p.Gln1260ArgfsTer27 | |
| XM_011527377.1:c.3698del | XP_011525679.1:p.Gln1233ArgfsTer27 | |
| XM_011527378.1:c.3698del | XP_011525680.1:p.Gln1233ArgfsTer26 | |
| XM_011527379.1:c.3578del | XP_011525681.1:p.Gln1193ArgfsTer27 | |
| XM_011527380.1:c.3572del | XP_011525682.1:p.Gln1191ArgfsTer27 | |
| XM_011527381.1:c.3572del | XP_011525683.1:p.Gln1191ArgfsTer27 | |
| XM_011527382.1:c.3455del | XP_011525684.1:p.Gln1152ArgfsTer27 | |
| XM_011527383.1:c.3452-957del | XP_011525685.1:n.3452-957del | |
| XM_011527384.1:c.3326-957del | XP_011525686.1:n.3326-957del | |
| XM_011527385.1:c.3320-957del | XP_011525687.1:n.3320-957del | |
| XM_011527386.1:c.3194-957del | XP_011525688.1:n.3194-957del | |
| XM_011527387.1:c.3056del | XP_011525689.1:p.Gln1019ArgfsTer27 | |
| XM_011527376.2:c.3779del | XP_011525678.1:p.Gln1260ArgfsTer27 | |
| XM_011527377.2:c.3698del | XP_011525679.1:p.Gln1233ArgfsTer27 | |
| XM_011527378.2:c.3698del | XP_011525680.1:p.Gln1233ArgfsTer26 | |
| XM_011527380.2:c.3572del | XP_011525682.1:p.Gln1191ArgfsTer27 | |
| XM_011527381.2:c.3572del | XP_011525683.1:p.Gln1191ArgfsTer27 | |
| XM_011527382.2:c.3455del | XP_011525684.1:p.Gln1152ArgfsTer27 | |
| XM_011527383.2:c.3452-957del | XP_011525685.1:n.3452-957del | |
| XM_011527384.2:c.3326-957del | XP_011525686.1:n.3326-957del | |
| XM_011527385.2:c.3320-957del | XP_011525687.1:n.3320-957del | |
| XM_011527386.2:c.3194-957del | XP_011525688.1:n.3194-957del | |
| XM_017027352.1:c.3566del | XP_016882841.1:p.Gln1189ArgfsTer27 | |
| XM_017027353.1:c.3440del | XP_016882842.1:p.Gln1147ArgfsTer27 | |
| XM_017027354.1:c.3200-957del | XP_016882843.1:n.3200-957del | |
| NM_001042545.2:c.3464del MANE Select | NP_001036010.1:p.Gln1155ArgfsTer27 |