Canonical Allele Identifier: CA2507781682
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648782_81648783insTTGCTAGATGTTCAT , CM000665.2:g.81648782_81648783insTTGCTAGATGTTCAT GRCh38
NC_000003.11:g.81697933_81697934insTTGCTAGATGTTCAT , CM000665.1:g.81697933_81697934insTTGCTAGATGTTCAT GRCh37
NC_000003.10:g.81780623_81780624insTTGCTAGATGTTCAT NCBI36
NG_011810.1:g.118019_118020insTGAACATCTAGCAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+74_691+75insTGAACATCTAGCAAA MANE Select ENSP00000410833.2:n.691+74_691+75insTGAAC...
ENST00000429644.6:c.691+74_691+75insTGAACATCTAGCAAA ENSP00000410833.2:n.691+74_691+75insTGAAC...
ENST00000489715.1:c.568+74_568+75insTGAACATCTAGCAAA ENSP00000419638.1:n.568+74_568+75insTGAAC...
ENST00000498468.1:n.219+74_219+75insTGAACATCTAGCAAA
NM_000158.3:c.691+74_691+75insTGAACATCTAGCAAA NP_000149.3:n.691+74_691+75insTGAACATCTAG...
NM_000158.4:c.691+74_691+75insTGAACATCTAGCAAA MANE Select NP_000149.4:n.691+74_691+75insTGAACATCTAG...
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