Linked Data
ClinVar Variation Id:
2676431
ClinVar RCV Id:
RCV003470044
dbSNP Id:
rs1337215414
gnomAD v3:
19-12649175-CT-C
gnomAD v4:
19-12649175-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12649176del , CM000681.2:g.12649176del | GRCh38 |
| NC_000019.9:g.12759990del , CM000681.1:g.12759990del | GRCh37 |
| NC_000019.8:g.12620990del | NCBI36 |
| NG_008318.1:g.22602del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2396del MANE Select | ENSP00000395473.2:p.Gln799ArgfsTer6 | |
| ENST00000221363.8:c.2393del | ENSP00000221363.4:p.Gln798ArgfsTer6 | |
| ENST00000456935.6:c.2396del | ENSP00000395473.2:p.Gln799ArgfsTer6 | |
| ENST00000466794.5:n.2986del | ||
| NM_000528.3:c.2396del | NP_000519.2:p.Gln799ArgfsTer6 | |
| NM_001173498.1:c.2393del | NP_001166969.1:p.Gln798ArgfsTer6 | |
| XM_005259913.1:c.2399del | XP_005259970.1:p.Gln800ArgfsTer6 | |
| XM_011528017.1:c.1295del | XP_011526319.1:p.Gln432ArgfsTer6 | |
| XM_005259913.2:c.2399del | XP_005259970.1:p.Gln800ArgfsTer6 | |
| XM_024451518.1:c.1295del | XP_024307286.1:p.Gln432ArgfsTer6 | |
| NM_000528.4:c.2396del MANE Select | NP_000519.2:p.Gln799ArgfsTer6 | |
| NM_001173498.2:c.2393del | NP_001166969.1:p.Gln798ArgfsTer6 |