Canonical Allele Identifier: CA1378730277
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1704809550
gnomAD v4: 3-81649111-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649115del , CM000665.2:g.81649115del GRCh38
NC_000003.11:g.81698266del , CM000665.1:g.81698266del GRCh37
NC_000003.10:g.81780956del NCBI36
NG_011810.1:g.117689del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-121del MANE Select ENSP00000410833.2:n.556-121del
ENST00000429644.6:c.556-121del ENSP00000410833.2:n.556-121del
ENST00000486920.1:n.552-121del
ENST00000489715.1:c.433-121del ENSP00000419638.1:n.433-121del
ENST00000498468.1:n.84-121del
NM_000158.3:c.556-121del NP_000149.3:n.556-121del
NM_000158.4:c.556-121del MANE Select NP_000149.4:n.556-121del
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Search 100 bp 3'