Canonical Allele Identifier: CA2138238163

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54883855_54883858delinsAAGG , CM000676.2:g.54883855_54883858delinsAAGG	GRCh38
NC_000014.8:g.55350573_55350576delinsAAGG , CM000676.1:g.55350573_55350576delinsAAGG	GRCh37
NC_000014.7:g.54420323_54420326delinsAAGG	NCBI36
NG_008647.1:g.23967_23970delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.344-18422_344-18419delinsCCTT MANE Select	ENSP00000419045.2:n.344-18422_344-18419delinsCCTT
ENST00000254299.8:n.492-18422_492-18419delinsCCTT
ENST00000395514.5:c.344-18422_344-18419delinsCCTT	ENSP00000378890.1:n.344-18422_344-18419delinsCCTT
ENST00000395521.6:n.127-18422_127-18419delinsCCTT
ENST00000491895.6:c.344-18422_344-18419delinsCCTT	ENSP00000419045.2:n.344-18422_344-18419delinsCCTT
ENST00000536224.2:c.344-18422_344-18419delinsCCTT	ENSP00000445246.2:n.344-18422_344-18419delinsCCTT
ENST00000543643.6:c.344-18422_344-18419delinsCCTT	ENSP00000444011.2:n.344-18422_344-18419delinsCCTT
ENST00000622544.4:c.344-18422_344-18419delinsCCTT	ENSP00000477796.1:n.344-18422_344-18419delinsCCTT
NM_000161.2:c.344-18422_344-18419delinsCCTT	NP_000152.1:n.344-18422_344-18419delinsCCTT
NM_001024024.1:c.344-18422_344-18419delinsCCTT	NP_001019195.1:n.344-18422_344-18419delinsCCTT
NM_001024070.1:c.344-18422_344-18419delinsCCTT	NP_001019241.1:n.344-18422_344-18419delinsCCTT
NM_001024071.1:c.344-18422_344-18419delinsCCTT	NP_001019242.1:n.344-18422_344-18419delinsCCTT
XM_005267530.1:c.344-18422_344-18419delinsCCTT	XP_005267587.1:n.344-18422_344-18419delinsCCTT
XM_011536643.1:c.344-18422_344-18419delinsCCTT	XP_011534945.1:n.344-18422_344-18419delinsCCTT
NM_000161.3:c.344-18422_344-18419delinsCCTT MANE Select	NP_000152.1:n.344-18422_344-18419delinsCCTT
NM_001024070.2:c.344-18422_344-18419delinsCCTT	NP_001019241.1:n.344-18422_344-18419delinsCCTT
NM_001024071.2:c.344-18422_344-18419delinsCCTT	NP_001019242.1:n.344-18422_344-18419delinsCCTT
NM_001024024.2:c.344-18422_344-18419delinsCCTT	NP_001019195.1:n.344-18422_344-18419delinsCCTT