Canonical Allele Identifier: CA2576135998

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4932382-GCTGGGGCAGGAGAGGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932386_4932403del , CM000679.2:g.4932386_4932403del	GRCh38
NC_000017.10:g.4835681_4835698del , CM000679.1:g.4835681_4835698del	GRCh37
NC_000017.9:g.4776461_4776478del	NCBI36
NG_008767.2:g.5092_5109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.-7+21_-7+38del (GP1BA) MANE Select	ENSP00000329380.5:n.-7+21_-7+38del
ENST00000649830.1:c.-888+1942_-888+1959del (CHRNE)	ENSP00000496907.1:n.-888+1942_-888+1959del
ENST00000329125.5:c.-7+21_-7+38del (GP1BA)	ENSP00000329380.5:n.-7+21_-7+38del
ENST00000611961.1:c.-7+21_-7+38del (GP1BA)	ENSP00000484439.1:n.-7+21_-7+38del
NM_000173.6:c.-7+21_-7+38del (GP1BA)	NP_000164.5:n.-7+21_-7+38del
NM_000173.7:c.-7+21_-7+38del (GP1BA) MANE Select	NP_000164.5:n.-7+21_-7+38del