Canonical Allele Identifier: CA2635578218

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4932528-AGGGGGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932533_4932539del , CM000679.2:g.4932533_4932539del	GRCh38
NC_000017.10:g.4835828_4835834del , CM000679.1:g.4835828_4835834del	GRCh37
NC_000017.9:g.4776608_4776614del	NCBI36
NG_008767.2:g.5239_5245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.-6-66_-6-60del (GP1BA) MANE Select	ENSP00000329380.5:n.-6-66_-6-60del
ENST00000649830.1:c.-888+1807_-888+1813del (CHRNE)	ENSP00000496907.1:n.-888+1807_-888+1813del
ENST00000329125.5:c.-6-66_-6-60del (GP1BA)	ENSP00000329380.5:n.-6-66_-6-60del
ENST00000611961.1:c.-6-66_-6-60del (GP1BA)	ENSP00000484439.1:n.-6-66_-6-60del
NM_000173.6:c.-6-66_-6-60del (GP1BA)	NP_000164.5:n.-6-66_-6-60del
NM_000173.7:c.-6-66_-6-60del (GP1BA) MANE Select	NP_000164.5:n.-6-66_-6-60del