Canonical Allele Identifier: CA2138218465

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844774_54844775delinsCT , CM000676.2:g.54844774_54844775delinsCT	GRCh38
NC_000014.8:g.55311492_55311493delinsCT , CM000676.1:g.55311492_55311493delinsCT	GRCh37
NC_000014.7:g.54381242_54381243delinsCT	NCBI36
NG_008647.1:g.63050_63051delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.627-632_627-631delinsAG MANE Select	ENSP00000419045.2:n.627-632_627-631delins...
ENST00000254299.8:n.775-632_775-631delinsAG
ENST00000395514.5:c.627-632_627-631delinsAG	ENSP00000378890.1:n.627-632_627-631delins...
ENST00000395521.6:n.293-1721_293-1720delinsAG
ENST00000491895.6:c.627-632_627-631delinsAG	ENSP00000419045.2:n.627-632_627-631delins...
ENST00000536224.2:c.626+993_626+994delinsAG	ENSP00000445246.2:n.626+993_626+994delins...
ENST00000543643.6:c.627-906_627-905delinsAG	ENSP00000444011.2:n.627-906_627-905delins...
ENST00000622544.4:c.627-632_627-631delinsAG	ENSP00000477796.1:n.627-632_627-631delins...
NM_000161.2:c.627-632_627-631delinsAG	NP_000152.1:n.627-632_627-631delinsAG
NM_001024024.1:c.627-632_627-631delinsAG	NP_001019195.1:n.627-632_627-631delinsAG
NM_001024070.1:c.627-906_627-905delinsAG	NP_001019241.1:n.627-906_627-905delinsAG
NM_001024071.1:c.626+993_626+994delinsAG	NP_001019242.1:n.626+993_626+994delinsAG
XM_005267530.1:c.627-906_627-905delinsAG	XP_005267587.1:n.627-906_627-905delinsAG
XM_017021218.1:c.333-632_333-631delinsAG	XP_016876707.1:n.333-632_333-631delinsAG
NM_000161.3:c.627-632_627-631delinsAG MANE Select	NP_000152.1:n.627-632_627-631delinsAG
NM_001024070.2:c.627-906_627-905delinsAG	NP_001019241.1:n.627-906_627-905delinsAG
NM_001024071.2:c.626+993_626+994delinsAG	NP_001019242.1:n.626+993_626+994delinsAG
NM_001024024.2:c.627-632_627-631delinsAG	NP_001019195.1:n.627-632_627-631delinsAG