Canonical Allele Identifier: CA1378729156

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646542_81646543delinsGA , CM000665.2:g.81646542_81646543delinsGA	GRCh38
NC_000003.11:g.81695693_81695694delinsGA , CM000665.1:g.81695693_81695694delinsGA	GRCh37
NC_000003.10:g.81778383_81778384delinsGA	NCBI36
NG_011810.1:g.120258_120259delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-61_692-60delinsTC MANE Select	ENSP00000410833.2:n.692-61_692-60delinsTC
ENST00000429644.6:c.692-61_692-60delinsTC	ENSP00000410833.2:n.692-61_692-60delinsTC
ENST00000489715.1:c.569-61_569-60delinsTC	ENSP00000419638.1:n.569-61_569-60delinsTC
ENST00000498468.1:n.220-39_220-38delinsTC
NM_000158.3:c.692-61_692-60delinsTC	NP_000149.3:n.692-61_692-60delinsTC
NM_000158.4:c.692-61_692-60delinsTC MANE Select	NP_000149.4:n.692-61_692-60delinsTC