Canonical Allele Identifier: CA1378679308

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535447_81535448delinsTA , CM000665.2:g.81535447_81535448delinsTA	GRCh38
NC_000003.11:g.81584598_81584599delinsTA , CM000665.1:g.81584598_81584599delinsTA	GRCh37
NC_000003.10:g.81667288_81667289delinsTA	NCBI36
NG_011810.1:g.231353_231354delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-123_1804-122delinsTA MANE Select	ENSP00000410833.2:n.1804-123_1804-122delinsTA
ENST00000429644.6:c.1804-123_1804-122delinsTA	ENSP00000410833.2:n.1804-123_1804-122delinsTA
ENST00000484687.1:n.205-123_205-122delinsTA
ENST00000489715.1:c.1681-123_1681-122delinsTA	ENSP00000419638.1:n.1681-123_1681-122delinsTA
NM_000158.3:c.1804-123_1804-122delinsTA	NP_000149.3:n.1804-123_1804-122delinsTA
NM_000158.4:c.1804-123_1804-122delinsTA MANE Select	NP_000149.4:n.1804-123_1804-122delinsTA