Canonical Allele Identifier: CA2756979747

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646519_81646520insAACACACCCAACA , CM000665.2:g.81646519_81646520insAACACACCCAACA	GRCh38
NC_000003.11:g.81695670_81695671insAACACACCCAACA , CM000665.1:g.81695670_81695671insAACACACCCAACA	GRCh37
NC_000003.10:g.81778360_81778361insAACACACCCAACA	NCBI36
NG_011810.1:g.120283_120284insTTGGGTGTGTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-36_692-35insTTGGGTGTGTTTG MANE Select	ENSP00000410833.2:n.692-36_692-35insTTGGGTGTGTTTG
ENST00000429644.6:c.692-36_692-35insTTGGGTGTGTTTG	ENSP00000410833.2:n.692-36_692-35insTTGGGTGTGTTTG
ENST00000489715.1:c.569-36_569-35insTTGGGTGTGTTTG	ENSP00000419638.1:n.569-36_569-35insTTGGGTGTGTTTG
ENST00000498468.1:n.220-14_220-13insTTGGGTGTGTTTG
NM_000158.3:c.692-36_692-35insTTGGGTGTGTTTG	NP_000149.3:n.692-36_692-35insTTGGGTGTGTTTG
NM_000158.4:c.692-36_692-35insTTGGGTGTGTTTG MANE Select	NP_000149.4:n.692-36_692-35insTTGGGTGTGTTTG