Canonical Allele Identifier: CA2138218456

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844734_54844735delinsAT , CM000676.2:g.54844734_54844735delinsAT	GRCh38
NC_000014.8:g.55311452_55311453delinsAT , CM000676.1:g.55311452_55311453delinsAT	GRCh37
NC_000014.7:g.54381202_54381203delinsAT	NCBI36
NG_008647.1:g.63090_63091delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.627-592_627-591delinsAT MANE Select	ENSP00000419045.2:n.627-592_627-591delinsAT
ENST00000254299.8:n.775-592_775-591delinsAT
ENST00000395514.5:c.627-592_627-591delinsAT	ENSP00000378890.1:n.627-592_627-591delinsAT
ENST00000395521.6:n.293-1681_293-1680delinsAT
ENST00000491895.6:c.627-592_627-591delinsAT	ENSP00000419045.2:n.627-592_627-591delinsAT
ENST00000536224.2:c.626+1033_626+1034delinsAT	ENSP00000445246.2:n.626+1033_626+1034delinsAT
ENST00000543643.6:c.627-866_627-865delinsAT	ENSP00000444011.2:n.627-866_627-865delinsAT
ENST00000622544.4:c.627-592_627-591delinsAT	ENSP00000477796.1:n.627-592_627-591delinsAT
NM_000161.2:c.627-592_627-591delinsAT	NP_000152.1:n.627-592_627-591delinsAT
NM_001024024.1:c.627-592_627-591delinsAT	NP_001019195.1:n.627-592_627-591delinsAT
NM_001024070.1:c.627-866_627-865delinsAT	NP_001019241.1:n.627-866_627-865delinsAT
NM_001024071.1:c.626+1033_626+1034delinsAT	NP_001019242.1:n.626+1033_626+1034delinsAT
XM_005267530.1:c.627-866_627-865delinsAT	XP_005267587.1:n.627-866_627-865delinsAT
XM_017021218.1:c.333-592_333-591delinsAT	XP_016876707.1:n.333-592_333-591delinsAT
NM_000161.3:c.627-592_627-591delinsAT MANE Select	NP_000152.1:n.627-592_627-591delinsAT
NM_001024070.2:c.627-866_627-865delinsAT	NP_001019241.1:n.627-866_627-865delinsAT
NM_001024071.2:c.626+1033_626+1034delinsAT	NP_001019242.1:n.626+1033_626+1034delinsAT
NM_001024024.2:c.627-592_627-591delinsAT	NP_001019195.1:n.627-592_627-591delinsAT