Canonical Allele Identifier: CA2580088250

Gene: GCH1

Linked Data

• ClinVar Variation Id: 2100750
• ClinVar RCV Id: RCV003025961

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844152_54844154del , CM000676.2:g.54844152_54844154del	GRCh38
NC_000014.8:g.55310870_55310872del , CM000676.1:g.55310870_55310872del	GRCh37
NC_000014.7:g.54380620_54380622del	NCBI36
NG_008647.1:g.63673_63675del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.627-9_627-7del MANE Select	ENSP00000419045.2:n.627-9_627-7del
ENST00000254299.8:n.775-9_775-7del
ENST00000395514.5:c.627-9_627-7del	ENSP00000378890.1:n.627-9_627-7del
ENST00000395521.6:n.293-1098_293-1096del
ENST00000491895.6:c.627-9_627-7del	ENSP00000419045.2:n.627-9_627-7del
ENST00000536224.2:c.627-1098_627-1096del	ENSP00000445246.2:n.627-1098_627-1096del
ENST00000543643.6:c.627-283_627-281del	ENSP00000444011.2:n.627-283_627-281del
ENST00000622544.4:c.627-9_627-7del	ENSP00000477796.1:n.627-9_627-7del
NM_000161.2:c.627-9_627-7del	NP_000152.1:n.627-9_627-7del
NM_001024024.1:c.627-9_627-7del	NP_001019195.1:n.627-9_627-7del
NM_001024070.1:c.627-283_627-281del	NP_001019241.1:n.627-283_627-281del
NM_001024071.1:c.627-1098_627-1096del	NP_001019242.1:n.627-1098_627-1096del
XM_005267530.1:c.627-283_627-281del	XP_005267587.1:n.627-283_627-281del
XM_017021218.1:c.333-9_333-7del	XP_016876707.1:n.333-9_333-7del
NM_000161.3:c.627-9_627-7del MANE Select	NP_000152.1:n.627-9_627-7del
NM_001024070.2:c.627-283_627-281del	NP_001019241.1:n.627-283_627-281del
NM_001024071.2:c.627-1098_627-1096del	NP_001019242.1:n.627-1098_627-1096del
NM_001024024.2:c.627-9_627-7del	NP_001019195.1:n.627-9_627-7del