Canonical Allele Identifier: CA2244625111

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932376_4932377delinsGT , CM000679.2:g.4932376_4932377delinsGT GRCh38
NC_000017.10:g.4835671_4835672delinsGT , CM000679.1:g.4835671_4835672delinsGT GRCh37
NC_000017.9:g.4776451_4776452delinsGT NCBI36
NG_008767.2:g.5082_5083delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.-7+11_-7+12delinsGT (GP1BA) MANE Select ENSP00000329380.5:n.-7+11_-7+12delinsGT
ENST00000649830.1:c.-888+1965_-888+1966delinsAC (CHRNE) ENSP00000496907.1:n.-888+1965_-888+1966delinsAC
ENST00000329125.5:c.-7+11_-7+12delinsGT (GP1BA) ENSP00000329380.5:n.-7+11_-7+12delinsGT
ENST00000611961.1:c.-7+11_-7+12delinsGT (GP1BA) ENSP00000484439.1:n.-7+11_-7+12delinsGT
NM_000173.6:c.-7+11_-7+12delinsGT (GP1BA) NP_000164.5:n.-7+11_-7+12delinsGT
NM_000173.7:c.-7+11_-7+12delinsGT (GP1BA) MANE Select NP_000164.5:n.-7+11_-7+12delinsGT