Linked Data
ClinVar Variation Id:
551633
ClinVar RCV Id:
RCV000666750
dbSNP Id:
rs1555705992
gnomAD v4:
19-12647233-CTG-C
MyVariant Identifiers:
chr19:g.12647234_12647235del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647237_12647238del , CM000681.2:g.12647237_12647238del | GRCh38 |
| NC_000019.9:g.12758051_12758052del , CM000681.1:g.12758051_12758052del | GRCh37 |
| NC_000019.8:g.12619051_12619052del | NCBI36 |
| NG_008318.1:g.24543_24544del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2921_2922del MANE Select | ENSP00000395473.2:p.Thr974ArgfsTer? | |
| ENST00000221363.8:c.2918_2919del | ENSP00000221363.4:p.Thr973ArgfsTer? | |
| ENST00000456935.6:c.2921_2922del | ENSP00000395473.2:p.Thr974ArgfsTer? | |
| ENST00000466794.5:n.3511_3512del | ||
| ENST00000469423.1:n.350_351del | ||
| ENST00000493218.5:n.332_333del | ||
| ENST00000597692.1:c.480_481del | ||
| NM_000528.3:c.2921_2922del | NP_000519.2:p.Thr974ArgfsTer? | |
| NM_001173498.1:c.2918_2919del | NP_001166969.1:p.Thr973ArgfsTer? | |
| XM_005259913.1:c.2924_2925del | XP_005259970.1:p.Thr975ArgfsTer? | |
| XM_011528017.1:c.1820_1821del | XP_011526319.1:p.Thr607ArgfsTer? | |
| XM_005259913.2:c.2924_2925del | XP_005259970.1:p.Thr975ArgfsTer? | |
| XM_024451518.1:c.1820_1821del | XP_024307286.1:p.Thr607ArgfsTer? | |
| NM_000528.4:c.2921_2922del MANE Select | NP_000519.2:p.Thr974ArgfsTer? | |
| NM_001173498.2:c.2918_2919del | NP_001166969.1:p.Thr973ArgfsTer? |