Canonical Allele Identifier: CA2244625646

Linked Data

dbSNP Id: rs1970376009

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933631del , CM000679.2:g.4933631del GRCh38
NC_000017.10:g.4836926del , CM000679.1:g.4836926del GRCh37
NC_000017.9:g.4777706del NCBI36
NG_008767.2:g.6337del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1027del (GP1BA) MANE Select ENSP00000329380.5:p.His343IlefsTer?
ENST00000649830.1:c.-888+711del (CHRNE) ENSP00000496907.1:n.-888+711del
ENST00000329125.5:c.1027del (GP1BA) ENSP00000329380.5:p.His343IlefsTer?
ENST00000611961.1:c.1027del (GP1BA) ENSP00000484439.1:p.His343IlefsTer?
NM_000173.6:c.1027del (GP1BA) NP_000164.5:p.His343IlefsTer?
NM_000173.7:c.1027del (GP1BA) MANE Select NP_000164.5:p.His343IlefsTer?