Canonical Allele Identifier: CA2138238277

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54883997_54883998delinsAG , CM000676.2:g.54883997_54883998delinsAG	GRCh38
NC_000014.8:g.55350715_55350716delinsAG , CM000676.1:g.55350715_55350716delinsAG	GRCh37
NC_000014.7:g.54420465_54420466delinsAG	NCBI36
NG_008647.1:g.23827_23828delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.343+18323_343+18324delinsCT MANE Select	ENSP00000419045.2:n.343+18323_343+18324delinsCT
ENST00000254299.8:n.491+18323_491+18324delinsCT
ENST00000395514.5:c.343+18323_343+18324delinsCT	ENSP00000378890.1:n.343+18323_343+18324delinsCT
ENST00000395521.6:n.126+18323_126+18324delinsCT
ENST00000491895.6:c.343+18323_343+18324delinsCT	ENSP00000419045.2:n.343+18323_343+18324delinsCT
ENST00000536224.2:c.343+18323_343+18324delinsCT	ENSP00000445246.2:n.343+18323_343+18324delinsCT
ENST00000543643.6:c.343+18323_343+18324delinsCT	ENSP00000444011.2:n.343+18323_343+18324delinsCT
ENST00000622544.4:c.343+18323_343+18324delinsCT	ENSP00000477796.1:n.343+18323_343+18324delinsCT
NM_000161.2:c.343+18323_343+18324delinsCT	NP_000152.1:n.343+18323_343+18324delinsCT
NM_001024024.1:c.343+18323_343+18324delinsCT	NP_001019195.1:n.343+18323_343+18324delinsCT
NM_001024070.1:c.343+18323_343+18324delinsCT	NP_001019241.1:n.343+18323_343+18324delinsCT
NM_001024071.1:c.343+18323_343+18324delinsCT	NP_001019242.1:n.343+18323_343+18324delinsCT
XM_005267530.1:c.343+18323_343+18324delinsCT	XP_005267587.1:n.343+18323_343+18324delinsCT
XM_011536643.1:c.343+18323_343+18324delinsCT	XP_011534945.1:n.343+18323_343+18324delinsCT
NM_000161.3:c.343+18323_343+18324delinsCT MANE Select	NP_000152.1:n.343+18323_343+18324delinsCT
NM_001024070.2:c.343+18323_343+18324delinsCT	NP_001019241.1:n.343+18323_343+18324delinsCT
NM_001024071.2:c.343+18323_343+18324delinsCT	NP_001019242.1:n.343+18323_343+18324delinsCT
NM_001024024.2:c.343+18323_343+18324delinsCT	NP_001019195.1:n.343+18323_343+18324delinsCT