Canonical Allele Identifier: CA2499222643

Gene: GCH1

Linked Data

• ClinVar Variation Id: 1199011
• ClinVar RCV Id: RCV001563358 ; RCV002569017
• dbSNP Id: rs2140041733

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845811_54845816del , CM000676.2:g.54845811_54845816del	GRCh38
NC_000014.8:g.55312529_55312534del , CM000676.1:g.55312529_55312534del	GRCh37
NC_000014.7:g.54382279_54382284del	NCBI36
NG_008647.1:g.62009_62014del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.578_583del MANE Select	ENSP00000419045.2:p.Ile193_Glu195delinsLy...
ENST00000254299.8:n.726_731del
ENST00000395514.5:c.578_583del	ENSP00000378890.1:p.Ile193_Glu195delinsLy...
ENST00000395521.6:n.293-2762_293-2757del
ENST00000491895.6:c.578_583del	ENSP00000419045.2:p.Ile193_Glu195delinsLy...
ENST00000536224.2:c.578_583del	ENSP00000445246.2:p.Ile193_Glu195delinsLy...
ENST00000543643.6:c.578_583del	ENSP00000444011.2:p.Ile193_Glu195delinsLy...
ENST00000622544.4:c.578_583del	ENSP00000477796.1:p.Ile193_Glu195delinsLy...
NM_000161.2:c.578_583del	NP_000152.1:p.Ile193_Glu195delinsLys
NM_001024024.1:c.578_583del	NP_001019195.1:p.Ile193_Glu195delinsLys
NM_001024070.1:c.578_583del	NP_001019241.1:p.Ile193_Glu195delinsLys
NM_001024071.1:c.578_583del	NP_001019242.1:p.Ile193_Glu195delinsLys
XM_005267530.1:c.578_583del	XP_005267587.1:p.Ile193_Glu195delinsLys
XM_017021218.1:c.284_289del	XP_016876707.1:p.Ile95_Glu97delinsLys
NM_000161.3:c.578_583del MANE Select	NP_000152.1:p.Ile193_Glu195delinsLys
NM_001024070.2:c.578_583del	NP_001019241.1:p.Ile193_Glu195delinsLys
NM_001024071.2:c.578_583del	NP_001019242.1:p.Ile193_Glu195delinsLys
NM_001024024.2:c.578_583del	NP_001019195.1:p.Ile193_Glu195delinsLys