Canonical Allele Identifier: CA544277869

Gene: GBE1

Linked Data

• gnomAD v2: 3-81695791-TGACC-T
• MyVariant Identifiers: chr3:g.81695792_81695795del (hg19) ; chr3:g.81646641_81646644del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646641_81646644del , CM000665.2:g.81646641_81646644del	GRCh38
NC_000003.11:g.81695792_81695795del , CM000665.1:g.81695792_81695795del	GRCh37
NC_000003.10:g.81778482_81778485del	NCBI36
NG_011810.1:g.120157_120160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-162_692-159del MANE Select	ENSP00000410833.2:n.692-162_692-159del
ENST00000429644.6:c.692-162_692-159del	ENSP00000410833.2:n.692-162_692-159del
ENST00000489715.1:c.569-162_569-159del	ENSP00000419638.1:n.569-162_569-159del
ENST00000498468.1:n.220-140_220-137del
NM_000158.3:c.692-162_692-159del	NP_000149.3:n.692-162_692-159del
NM_000158.4:c.692-162_692-159del MANE Select	NP_000149.4:n.692-162_692-159del