Linked Data
dbSNP Id:
rs1969883625
gnomAD v4:
19-44909100-ACGCCTGCAGGCCGAGGCCTTCCAGGCC-A
MyVariant Identifiers:
chr19:g.45412358_45412384del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44909106_44909132del , CM000681.2:g.44909106_44909132del | GRCh38 |
| NC_000019.9:g.45412363_45412389del , CM000681.1:g.45412363_45412389del | GRCh37 |
| NC_000019.8:g.50104203_50104229del | NCBI36 |
| NG_007084.2:g.8325_8351del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.810_836del MANE Select | ENSP00000252486.3:p.Gln271_Leu279del | |
| ENST00000252486.8:c.810_836del | ENSP00000252486.3:p.Gln271_Leu279del | |
| NM_000041.3:c.810_836del | NP_000032.1:p.Gln271_Leu279del | |
| NM_001302688.1:c.888_914del | NP_001289617.1:p.Gln297_Leu305del | |
| NM_001302689.1:c.810_836del | NP_001289618.1:p.Gln271_Leu279del | |
| NM_001302690.1:c.810_836del | NP_001289619.1:p.Gln271_Leu279del | |
| NM_001302691.1:c.810_836del | NP_001289620.1:p.Gln271_Leu279del | |
| NM_000041.4:c.810_836del MANE Select | NP_000032.1:p.Gln271_Leu279del | |
| NM_001302688.2:c.888_914del | NP_001289617.1:p.Gln297_Leu305del | |
| NM_001302689.2:c.810_836del | NP_001289618.1:p.Gln271_Leu279del | |
| NM_001302691.2:c.810_836del | NP_001289620.1:p.Gln271_Leu279del | |
| NM_001302690.2:c.810_836del | NP_001289619.1:p.Gln271_Leu279del |