Canonical Allele Identifier: CA2138217990

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843599_54843600delinsCG , CM000676.2:g.54843599_54843600delinsCG	GRCh38
NC_000014.8:g.55310317_55310318delinsCG , CM000676.1:g.55310317_55310318delinsCG	GRCh37
NC_000014.7:g.54380067_54380068delinsCG	NCBI36
NG_008647.1:g.64225_64226delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*417_*418delinsCG MANE Select	ENSP00000419045.2:n.*417_*418delinsCG
ENST00000254299.8:n.1318_1319delinsCG
ENST00000395514.5:c.*16+401_*16+402delinsCG	ENSP00000378890.1:n.*16+401_*16+402delinsCG
ENST00000395521.6:n.293-546_293-545delinsCG
ENST00000491895.6:c.*417_*418delinsCG	ENSP00000419045.2:n.*417_*418delinsCG
ENST00000536224.2:c.627-546_627-545delinsCG	ENSP00000445246.2:n.627-546_627-545delinsCG
ENST00000543643.6:c.*12+182_*12+183delinsCG	ENSP00000444011.2:n.*12+182_*12+183delinsCG
ENST00000622544.4:c.*417_*418delinsCG	ENSP00000477796.1:n.*417_*418delinsCG
NM_000161.2:c.*417_*418delinsCG	NP_000152.1:n.*417_*418delinsCG
NM_001024024.1:c.*16+401_*16+402delinsCG	NP_001019195.1:n.*16+401_*16+402delinsCG
NM_001024070.1:c.*12+182_*12+183delinsCG	NP_001019241.1:n.*12+182_*12+183delinsCG
NM_001024071.1:c.627-546_627-545delinsCG	NP_001019242.1:n.627-546_627-545delinsCG
XM_005267530.1:c.*194_*195delinsCG	XP_005267587.1:n.*194_*195delinsCG
XM_017021218.1:c.*417_*418delinsCG	XP_016876707.1:n.*417_*418delinsCG
NM_000161.3:c.*417_*418delinsCG MANE Select	NP_000152.1:n.*417_*418delinsCG
NM_001024070.2:c.*12+182_*12+183delinsCG	NP_001019241.1:n.*12+182_*12+183delinsCG
NM_001024071.2:c.627-546_627-545delinsCG	NP_001019242.1:n.627-546_627-545delinsCG
NM_001024024.2:c.*16+401_*16+402delinsCG	NP_001019195.1:n.*16+401_*16+402delinsCG