Canonical Allele Identifier: CA2801650436

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843763_54843770del , CM000676.2:g.54843763_54843770del	GRCh38
NC_000014.8:g.55310481_55310488del , CM000676.1:g.55310481_55310488del	GRCh37
NC_000014.7:g.54380231_54380238del	NCBI36
NG_008647.1:g.64058_64065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*250_*257del MANE Select	ENSP00000419045.2:n.*250_*257del
ENST00000254299.8:n.1151_1158del
ENST00000395514.5:c.*16+234_*16+241del	ENSP00000378890.1:n.*16+234_*16+241del
ENST00000395521.6:n.293-713_293-706del
ENST00000491895.6:c.*250_*257del	ENSP00000419045.2:n.*250_*257del
ENST00000536224.2:c.627-713_627-706del	ENSP00000445246.2:n.627-713_627-706del
ENST00000543643.6:c.*12+15_*12+22del	ENSP00000444011.2:n.*12+15_*12+22del
ENST00000622544.4:c.*250_*257del	ENSP00000477796.1:n.*250_*257del
NM_000161.2:c.*250_*257del	NP_000152.1:n.*250_*257del
NM_001024024.1:c.*16+234_*16+241del	NP_001019195.1:n.*16+234_*16+241del
NM_001024070.1:c.*12+15_*12+22del	NP_001019241.1:n.*12+15_*12+22del
NM_001024071.1:c.627-713_627-706del	NP_001019242.1:n.627-713_627-706del
XM_005267530.1:c.*27_*34del	XP_005267587.1:n.*27_*34del
XM_017021218.1:c.*250_*257del	XP_016876707.1:n.*250_*257del
NM_000161.3:c.*250_*257del MANE Select	NP_000152.1:n.*250_*257del
NM_001024070.2:c.*12+15_*12+22del	NP_001019241.1:n.*12+15_*12+22del
NM_001024071.2:c.627-713_627-706del	NP_001019242.1:n.627-713_627-706del
NM_001024024.2:c.*16+234_*16+241del	NP_001019195.1:n.*16+234_*16+241del