Canonical Allele Identifier: CA2531238089
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648780_81648781insA , CM000665.2:g.81648780_81648781insA GRCh38
NC_000003.11:g.81697931_81697932insA , CM000665.1:g.81697931_81697932insA GRCh37
NC_000003.10:g.81780621_81780622insA NCBI36
NG_011810.1:g.118020_118021insT

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+75_691+76insT MANE Select ENSP00000410833.2:n.691+75_691+76insT
ENST00000429644.6:c.691+75_691+76insT ENSP00000410833.2:n.691+75_691+76insT
ENST00000489715.1:c.568+75_568+76insT ENSP00000419638.1:n.568+75_568+76insT
ENST00000498468.1:n.219+75_219+76insT
NM_000158.3:c.691+75_691+76insT NP_000149.3:n.691+75_691+76insT
NM_000158.4:c.691+75_691+76insT MANE Select NP_000149.4:n.691+75_691+76insT
Search 100 bp 5'
Search 100 bp 3'