Canonical Allele Identifier: CA2138233682

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54876850_54876855delinsTAAGAG , CM000676.2:g.54876850_54876855delinsTAAGAG	GRCh38
NC_000014.8:g.55343568_55343573delinsTAAGAG , CM000676.1:g.55343568_55343573delinsTAAGAG	GRCh37
NC_000014.7:g.54413318_54413323delinsTAAGAG	NCBI36
NG_008647.1:g.30970_30975delinsCTCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.344-11419_344-11414delinsCTCTTA MANE Select	ENSP00000419045.2:n.344-11419_344-11414delinsCTCTTA
ENST00000254299.8:n.492-11419_492-11414delinsCTCTTA
ENST00000395514.5:c.344-11419_344-11414delinsCTCTTA	ENSP00000378890.1:n.344-11419_344-11414delinsCTCTTA
ENST00000395521.6:n.127-11419_127-11414delinsCTCTTA
ENST00000491895.6:c.344-11419_344-11414delinsCTCTTA	ENSP00000419045.2:n.344-11419_344-11414delinsCTCTTA
ENST00000536224.2:c.344-11419_344-11414delinsCTCTTA	ENSP00000445246.2:n.344-11419_344-11414delinsCTCTTA
ENST00000543643.6:c.344-11419_344-11414delinsCTCTTA	ENSP00000444011.2:n.344-11419_344-11414delinsCTCTTA
ENST00000622544.4:c.344-11419_344-11414delinsCTCTTA	ENSP00000477796.1:n.344-11419_344-11414delinsCTCTTA
NM_000161.2:c.344-11419_344-11414delinsCTCTTA	NP_000152.1:n.344-11419_344-11414delinsCTCTTA
NM_001024024.1:c.344-11419_344-11414delinsCTCTTA	NP_001019195.1:n.344-11419_344-11414delinsCTCTTA
NM_001024070.1:c.344-11419_344-11414delinsCTCTTA	NP_001019241.1:n.344-11419_344-11414delinsCTCTTA
NM_001024071.1:c.344-11419_344-11414delinsCTCTTA	NP_001019242.1:n.344-11419_344-11414delinsCTCTTA
XM_005267530.1:c.344-11419_344-11414delinsCTCTTA	XP_005267587.1:n.344-11419_344-11414delinsCTCTTA
XM_011536643.1:c.344-11419_344-11414delinsCTCTTA	XP_011534945.1:n.344-11419_344-11414delinsCTCTTA
XM_017021218.1:c.49+4687_49+4692delinsCTCTTA	XP_016876707.1:n.49+4687_49+4692delinsCTCTTA
NM_000161.3:c.344-11419_344-11414delinsCTCTTA MANE Select	NP_000152.1:n.344-11419_344-11414delinsCTCTTA
NM_001024070.2:c.344-11419_344-11414delinsCTCTTA	NP_001019241.1:n.344-11419_344-11414delinsCTCTTA
NM_001024071.2:c.344-11419_344-11414delinsCTCTTA	NP_001019242.1:n.344-11419_344-11414delinsCTCTTA
NM_001024024.2:c.344-11419_344-11414delinsCTCTTA	NP_001019195.1:n.344-11419_344-11414delinsCTCTTA