Canonical Allele Identifier: CA2138218032

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843700_54843701delinsAC , CM000676.2:g.54843700_54843701delinsAC	GRCh38
NC_000014.8:g.55310418_55310419delinsAC , CM000676.1:g.55310418_55310419delinsAC	GRCh37
NC_000014.7:g.54380168_54380169delinsAC	NCBI36
NG_008647.1:g.64124_64125delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*316_*317delinsGT MANE Select	ENSP00000419045.2:n.*316_*317delinsGT
ENST00000254299.8:n.1217_1218delinsGT
ENST00000395514.5:c.*16+300_*16+301delinsGT	ENSP00000378890.1:n.*16+300_*16+301delinsGT
ENST00000395521.6:n.293-647_293-646delinsGT
ENST00000491895.6:c.*316_*317delinsGT	ENSP00000419045.2:n.*316_*317delinsGT
ENST00000536224.2:c.627-647_627-646delinsGT	ENSP00000445246.2:n.627-647_627-646delinsGT
ENST00000543643.6:c.*12+81_*12+82delinsGT	ENSP00000444011.2:n.*12+81_*12+82delinsGT
ENST00000622544.4:c.*316_*317delinsGT	ENSP00000477796.1:n.*316_*317delinsGT
NM_000161.2:c.*316_*317delinsGT	NP_000152.1:n.*316_*317delinsGT
NM_001024024.1:c.*16+300_*16+301delinsGT	NP_001019195.1:n.*16+300_*16+301delinsGT
NM_001024070.1:c.*12+81_*12+82delinsGT	NP_001019241.1:n.*12+81_*12+82delinsGT
NM_001024071.1:c.627-647_627-646delinsGT	NP_001019242.1:n.627-647_627-646delinsGT
XM_005267530.1:c.*93_*94delinsGT	XP_005267587.1:n.*93_*94delinsGT
XM_017021218.1:c.*316_*317delinsGT	XP_016876707.1:n.*316_*317delinsGT
NM_000161.3:c.*316_*317delinsGT MANE Select	NP_000152.1:n.*316_*317delinsGT
NM_001024070.2:c.*12+81_*12+82delinsGT	NP_001019241.1:n.*12+81_*12+82delinsGT
NM_001024071.2:c.627-647_627-646delinsGT	NP_001019242.1:n.627-647_627-646delinsGT
NM_001024024.2:c.*16+300_*16+301delinsGT	NP_001019195.1:n.*16+300_*16+301delinsGT