Canonical Allele Identifier: CA544277871

Gene: GBE1

Linked Data

• gnomAD v2: 3-81695795-C-CTTTT
• MyVariant Identifiers: chr3:g.81695795_81695796insTTTT (hg19) ; chr3:g.81646644_81646645insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646646_81646647insTTTT , CM000665.2:g.81646646_81646647insTTTT	GRCh38
NC_000003.11:g.81695797_81695798insTTTT , CM000665.1:g.81695797_81695798insTTTT	GRCh37
NC_000003.10:g.81778487_81778488insTTTT	NCBI36
NG_011810.1:g.120156_120157insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-163_692-162insAAAA MANE Select	ENSP00000410833.2:n.692-163_692-162insAAAA
ENST00000429644.6:c.692-163_692-162insAAAA	ENSP00000410833.2:n.692-163_692-162insAAAA
ENST00000489715.1:c.569-163_569-162insAAAA	ENSP00000419638.1:n.569-163_569-162insAAAA
ENST00000498468.1:n.220-141_220-140insAAAA
NM_000158.3:c.692-163_692-162insAAAA	NP_000149.3:n.692-163_692-162insAAAA
NM_000158.4:c.692-163_692-162insAAAA MANE Select	NP_000149.4:n.692-163_692-162insAAAA