Linked Data
ClinVar Variation Id:
504318
ClinVar RCV Id:
RCV000598687
dbSNP Id:
rs748332944
ExAC:
19:1401314 G / GGCC
gnomAD v2:
19-1401314-G-GGCC
gnomAD v4:
19-1401315-G-GGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401316_1401318dup , CM000681.2:g.1401316_1401318dup | GRCh38 |
| NC_000019.9:g.1401315_1401317dup , CM000681.1:g.1401315_1401317dup | GRCh37 |
| NC_000019.8:g.1352315_1352317dup | NCBI36 |
| NG_009785.1:g.5236_5238dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.159_161dup MANE Select | ENSP00000252288.1:p.Ala54_Ala55insAla | |
| ENST00000447102.8:c.159_161dup | ENSP00000403536.2:p.Ala54_Ala55insAla | |
| ENST00000640762.1:c.112+47_112+49dup | ENSP00000492031.1:n.112+47_112+49dup | |
| ENST00000252288.6:c.159_161dup | ENSP00000252288.1:p.Ala54_Ala55insAla | |
| ENST00000447102.7:c.159_161dup | ENSP00000403536.2:p.Ala54_Ala55insAla | |
| NM_000156.5:c.159_161dup | NP_000147.1:p.Ala54_Ala55insAla | |
| NM_138924.2:c.159_161dup | NP_620279.1:p.Ala54_Ala55insAla | |
| NM_000156.6:c.159_161dup MANE Select | NP_000147.1:p.Ala54_Ala55insAla | |
| NM_138924.3:c.159_161dup | NP_620279.1:p.Ala54_Ala55insAla |