Canonical Allele Identifier: CA2244625481

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933236_4933239delinsACCT , CM000679.2:g.4933236_4933239delinsACCT GRCh38
NC_000017.10:g.4836531_4836534delinsACCT , CM000679.1:g.4836531_4836534delinsACCT GRCh37
NC_000017.9:g.4777311_4777314delinsACCT NCBI36
NG_008767.2:g.5942_5945delinsACCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.632_635delinsACCT (GP1BA) MANE Select ENSP00000329380.5:p.His211=
ENST00000649830.1:c.-888+1103_-888+1106delinsAGGT (CHRNE) ENSP00000496907.1:n.-888+1103_-888+1106delinsAGGT
ENST00000329125.5:c.632_635delinsACCT (GP1BA) ENSP00000329380.5:p.His211=
ENST00000611961.1:c.632_635delinsACCT (GP1BA) ENSP00000484439.1:p.His211=
NM_000173.6:c.632_635delinsACCT (GP1BA) NP_000164.5:p.His211=
NM_000173.7:c.632_635delinsACCT (GP1BA) MANE Select NP_000164.5:p.His211=