Canonical Allele Identifier: CA2138218238

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844184_54844185delinsAG , CM000676.2:g.54844184_54844185delinsAG	GRCh38
NC_000014.8:g.55310902_55310903delinsAG , CM000676.1:g.55310902_55310903delinsAG	GRCh37
NC_000014.7:g.54380652_54380653delinsAG	NCBI36
NG_008647.1:g.63640_63641delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.627-42_627-41delinsCT MANE Select	ENSP00000419045.2:n.627-42_627-41delinsCT
ENST00000254299.8:n.775-42_775-41delinsCT
ENST00000395514.5:c.627-42_627-41delinsCT	ENSP00000378890.1:n.627-42_627-41delinsCT
ENST00000395521.6:n.293-1131_293-1130delinsCT
ENST00000491895.6:c.627-42_627-41delinsCT	ENSP00000419045.2:n.627-42_627-41delinsCT
ENST00000536224.2:c.627-1131_627-1130delinsCT	ENSP00000445246.2:n.627-1131_627-1130delinsCT
ENST00000543643.6:c.627-316_627-315delinsCT	ENSP00000444011.2:n.627-316_627-315delinsCT
ENST00000622544.4:c.627-42_627-41delinsCT	ENSP00000477796.1:n.627-42_627-41delinsCT
NM_000161.2:c.627-42_627-41delinsCT	NP_000152.1:n.627-42_627-41delinsCT
NM_001024024.1:c.627-42_627-41delinsCT	NP_001019195.1:n.627-42_627-41delinsCT
NM_001024070.1:c.627-316_627-315delinsCT	NP_001019241.1:n.627-316_627-315delinsCT
NM_001024071.1:c.627-1131_627-1130delinsCT	NP_001019242.1:n.627-1131_627-1130delinsCT
XM_005267530.1:c.627-316_627-315delinsCT	XP_005267587.1:n.627-316_627-315delinsCT
XM_017021218.1:c.333-42_333-41delinsCT	XP_016876707.1:n.333-42_333-41delinsCT
NM_000161.3:c.627-42_627-41delinsCT MANE Select	NP_000152.1:n.627-42_627-41delinsCT
NM_001024070.2:c.627-316_627-315delinsCT	NP_001019241.1:n.627-316_627-315delinsCT
NM_001024071.2:c.627-1131_627-1130delinsCT	NP_001019242.1:n.627-1131_627-1130delinsCT
NM_001024024.2:c.627-42_627-41delinsCT	NP_001019195.1:n.627-42_627-41delinsCT