Linked Data
dbSNP Id:
rs2032568251
gnomAD v3:
19-48703514-GGTGAAC-G
gnomAD v4:
19-48703514-GGTGAAC-G
MyVariant Identifiers:
chr19:g.49206772_49206777del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703516_48703521del , CM000681.2:g.48703516_48703521del | GRCh38 |
| NC_000019.9:g.49206773_49206778del , CM000681.1:g.49206773_49206778del | GRCh37 |
| NC_000019.8:g.53898585_53898590del | NCBI36 |
| NG_007511.1:g.12546_12551del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.560_565del MANE Select | ENSP00000387498.2:p.Val187_Asn188del | |
| ENST00000522966.2:c.560_565del | ENSP00000430227.2:p.Val187_Asn188del | |
| ENST00000391876.5:c.560_565del | ENSP00000375748.4:p.Val187_Asn188del | |
| ENST00000425340.2:c.560_565del | ENSP00000387498.2:p.Val187_Asn188del | |
| ENST00000522966.1:c.560_565del | ENSP00000430227.1:p.Val187_Asn188del | |
| NM_000511.5:c.560_565del | NP_000502.4:p.Val187_Asn188del | |
| NM_001097638.2:c.560_565del | NP_001091107.1:p.Val187_Asn188del | |
| NR_131188.1:n.329_334del | ||
| NM_000511.6:c.560_565del MANE Select | NP_000502.4:p.Val187_Asn188del | |
| NM_001097638.3:c.560_565del | NP_001091107.1:p.Val187_Asn188del |