Canonical Allele Identifier: CA1378729162

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646551_81646557delinsCATCCTT , CM000665.2:g.81646551_81646557delinsCATCCTT	GRCh38
NC_000003.11:g.81695702_81695708delinsCATCCTT , CM000665.1:g.81695702_81695708delinsCATCCTT	GRCh37
NC_000003.10:g.81778392_81778398delinsCATCCTT	NCBI36
NG_011810.1:g.120244_120250delinsAAGGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-75_692-69delinsAAGGATG MANE Select	ENSP00000410833.2:n.692-75_692-69delinsAAGGATG
ENST00000429644.6:c.692-75_692-69delinsAAGGATG	ENSP00000410833.2:n.692-75_692-69delinsAAGGATG
ENST00000489715.1:c.569-75_569-69delinsAAGGATG	ENSP00000419638.1:n.569-75_569-69delinsAAGGATG
ENST00000498468.1:n.220-53_220-47delinsAAGGATG
NM_000158.3:c.692-75_692-69delinsAAGGATG	NP_000149.3:n.692-75_692-69delinsAAGGATG
NM_000158.4:c.692-75_692-69delinsAAGGATG MANE Select	NP_000149.4:n.692-75_692-69delinsAAGGATG