Canonical Allele Identifier: CA2499886
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs759451512
ExAC: 3:81695675 TA / T
gnomAD v2: 3-81695675-TA-T
gnomAD v3: 3-81646524-TA-T
gnomAD v4: 3-81646524-TA-T
COSMIC: COSN1282369
MyVariant Identifiers: chr3:g.81695676del (hg19) chr3:g.81646525del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646533del , CM000665.2:g.81646533del GRCh38
NC_000003.11:g.81695684del , CM000665.1:g.81695684del GRCh37
NC_000003.10:g.81778374del NCBI36
NG_011810.1:g.120276del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-43del MANE Select ENSP00000410833.2:n.692-43del
ENST00000429644.6:c.692-43del ENSP00000410833.2:n.692-43del
ENST00000489715.1:c.569-43del ENSP00000419638.1:n.569-43del
ENST00000498468.1:n.220-21del
NM_000158.3:c.692-43del NP_000149.3:n.692-43del
NM_000158.4:c.692-43del MANE Select NP_000149.4:n.692-43del
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