Canonical Allele Identifier: CA2138217957

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843524_54843530delinsAATAAAC , CM000676.2:g.54843524_54843530delinsAATAAAC	GRCh38
NC_000014.8:g.55310242_55310248delinsAATAAAC , CM000676.1:g.55310242_55310248delinsAATAAAC	GRCh37
NC_000014.7:g.54379992_54379998delinsAATAAAC	NCBI36
NG_008647.1:g.64295_64301delinsGTTTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*487_*493delinsGTTTATT MANE Select	ENSP00000419045.2:n.*487_*493delinsGTTTATT
ENST00000254299.8:n.1388_1394delinsGTTTATT
ENST00000395514.5:c.*16+471_*17-470delinsGTTTATT	ENSP00000378890.1:n.*16+471_*17-470delinsGTTTATT
ENST00000395521.6:n.293-476_293-470delinsGTTTATT
ENST00000491895.6:c.*487_*493delinsGTTTATT	ENSP00000419045.2:n.*487_*493delinsGTTTATT
ENST00000536224.2:c.627-476_627-470delinsGTTTATT	ENSP00000445246.2:n.627-476_627-470delinsGTTTATT
ENST00000543643.6:c.*12+252_*12+258delinsGTTTATT	ENSP00000444011.2:n.*12+252_*12+258delinsGTTTATT
ENST00000622544.4:c.*487_*493delinsGTTTATT	ENSP00000477796.1:n.*487_*493delinsGTTTATT
NM_000161.2:c.*487_*493delinsGTTTATT	NP_000152.1:n.*487_*493delinsGTTTATT
NM_001024024.1:c.*16+471_*17-470delinsGTTTATT	NP_001019195.1:n.*16+471_*17-470delinsGTTTATT
NM_001024070.1:c.*12+252_*12+258delinsGTTTATT	NP_001019241.1:n.*12+252_*12+258delinsGTTTATT
NM_001024071.1:c.627-476_627-470delinsGTTTATT	NP_001019242.1:n.627-476_627-470delinsGTTTATT
XM_005267530.1:c.*264_*270delinsGTTTATT	XP_005267587.1:n.*264_*270delinsGTTTATT
XM_017021218.1:c.*487_*493delinsGTTTATT	XP_016876707.1:n.*487_*493delinsGTTTATT
NM_000161.3:c.*487_*493delinsGTTTATT MANE Select	NP_000152.1:n.*487_*493delinsGTTTATT
NM_001024070.2:c.*12+252_*12+258delinsGTTTATT	NP_001019241.1:n.*12+252_*12+258delinsGTTTATT
NM_001024071.2:c.627-476_627-470delinsGTTTATT	NP_001019242.1:n.627-476_627-470delinsGTTTATT
NM_001024024.2:c.*16+471_*17-470delinsGTTTATT	NP_001019195.1:n.*16+471_*17-470delinsGTTTATT