Canonical Allele Identifier: CA2138218224

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844147_54844148delinsCA , CM000676.2:g.54844147_54844148delinsCA	GRCh38
NC_000014.8:g.55310865_55310866delinsCA , CM000676.1:g.55310865_55310866delinsCA	GRCh37
NC_000014.7:g.54380615_54380616delinsCA	NCBI36
NG_008647.1:g.63677_63678delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.627-5_627-4delinsTG MANE Select	ENSP00000419045.2:n.627-5_627-4delinsTG
ENST00000254299.8:n.775-5_775-4delinsTG
ENST00000395514.5:c.627-5_627-4delinsTG	ENSP00000378890.1:n.627-5_627-4delinsTG
ENST00000395521.6:n.293-1094_293-1093delinsTG
ENST00000491895.6:c.627-5_627-4delinsTG	ENSP00000419045.2:n.627-5_627-4delinsTG
ENST00000536224.2:c.627-1094_627-1093delinsTG	ENSP00000445246.2:n.627-1094_627-1093deli...
ENST00000543643.6:c.627-279_627-278delinsTG	ENSP00000444011.2:n.627-279_627-278delins...
ENST00000622544.4:c.627-5_627-4delinsTG	ENSP00000477796.1:n.627-5_627-4delinsTG
NM_000161.2:c.627-5_627-4delinsTG	NP_000152.1:n.627-5_627-4delinsTG
NM_001024024.1:c.627-5_627-4delinsTG	NP_001019195.1:n.627-5_627-4delinsTG
NM_001024070.1:c.627-279_627-278delinsTG	NP_001019241.1:n.627-279_627-278delinsTG
NM_001024071.1:c.627-1094_627-1093delinsTG	NP_001019242.1:n.627-1094_627-1093delinsT...
XM_005267530.1:c.627-279_627-278delinsTG	XP_005267587.1:n.627-279_627-278delinsTG
XM_017021218.1:c.333-5_333-4delinsTG	XP_016876707.1:n.333-5_333-4delinsTG
NM_000161.3:c.627-5_627-4delinsTG MANE Select	NP_000152.1:n.627-5_627-4delinsTG
NM_001024070.2:c.627-279_627-278delinsTG	NP_001019241.1:n.627-279_627-278delinsTG
NM_001024071.2:c.627-1094_627-1093delinsTG	NP_001019242.1:n.627-1094_627-1093delinsT...
NM_001024024.2:c.627-5_627-4delinsTG	NP_001019195.1:n.627-5_627-4delinsTG