Canonical Allele Identifier: CA358310

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81493813_81493821delinsACCTGTCATGTAAAAAACA , CM000665.2:g.81493813_81493821delinsACCTGTCATGTAAAAAACA	GRCh38
NC_000003.11:g.81542964_81542972delinsACCTGTCATGTAAAAAACA , CM000665.1:g.81542964_81542972delinsACCTGTCATGTAAAAAACA	GRCh37
NC_000003.10:g.81625654_81625662delinsACCTGTCATGTAAAAAACA	NCBI36
NG_011810.1:g.272980_272988delinsTGTTTTTTACATGACAGGT

Transcript Alleles

HGVS	Amino-acid Change
NM_000158.4:c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT MANE Select	NP_000149.4:n.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT
ENST00000429644.7:c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT MANE Select	ENSP00000410833.2:n.2053-3358_2053-3350delinsTGTTTTTTACATGACA...
NM_000158.3:c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT	NP_000149.3:n.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT
ENST00000429644.6:c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT	ENSP00000410833.2:n.2053-3358_2053-3350delinsTGTTTTTTACATGACA...
ENST00000489715.1:c.1930-3358_1930-3350delinsTGTTTTTTACATGACAGGT	ENSP00000419638.1:n.1930-3358_1930-3350delinsTGTTTTTTACATGACA...