Canonical Allele Identifier: CA2635578058

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4932432-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932433_4932434del , CM000679.2:g.4932433_4932434del	GRCh38
NC_000017.10:g.4835728_4835729del , CM000679.1:g.4835728_4835729del	GRCh37
NC_000017.9:g.4776508_4776509del	NCBI36
NG_008767.2:g.5139_5140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.-7+68_-7+69del (GP1BA) MANE Select	ENSP00000329380.5:n.-7+68_-7+69del
ENST00000649830.1:c.-888+1908_-888+1909del (CHRNE)	ENSP00000496907.1:n.-888+1908_-888+1909del
ENST00000329125.5:c.-7+68_-7+69del (GP1BA)	ENSP00000329380.5:n.-7+68_-7+69del
ENST00000611961.1:c.-7+68_-7+69del (GP1BA)	ENSP00000484439.1:n.-7+68_-7+69del
NM_000173.6:c.-7+68_-7+69del (GP1BA)	NP_000164.5:n.-7+68_-7+69del
NM_000173.7:c.-7+68_-7+69del (GP1BA) MANE Select	NP_000164.5:n.-7+68_-7+69del