Canonical Allele Identifier: CA2635577953

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4932355-T-TCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932363_4932366dup , CM000679.2:g.4932363_4932366dup	GRCh38
NC_000017.10:g.4835658_4835661dup , CM000679.1:g.4835658_4835661dup	GRCh37
NC_000017.9:g.4776438_4776441dup	NCBI36
NG_008767.2:g.5069_5072dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.-9_-7+1dup (GP1BA)
ENST00000649830.1:c.-888+1983_-888+1986dup (CHRNE)	ENSP00000496907.1:n.-888+1983_-888+1986dup
ENST00000329125.5:c.-9_-7+1dup (GP1BA)
ENST00000611961.1:c.-9_-7+1dup (GP1BA)
NM_000173.6:c.-9_-7+1dup (GP1BA)
NM_000173.7:c.-9_-7+1dup (GP1BA)