Canonical Allele Identifier: CA2575532409

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843592del , CM000676.2:g.54843592del	GRCh38
NC_000014.8:g.55310310del , CM000676.1:g.55310310del	GRCh37
NC_000014.7:g.54380060del	NCBI36
NG_008647.1:g.64233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*425del MANE Select	ENSP00000419045.2:n.*425del
ENST00000254299.8:n.1326del
ENST00000395514.5:c.*16+409del	ENSP00000378890.1:n.*16+409del
ENST00000395521.6:n.293-538del
ENST00000491895.6:c.*425del	ENSP00000419045.2:n.*425del
ENST00000536224.2:c.627-538del	ENSP00000445246.2:n.627-538del
ENST00000543643.6:c.*12+190del	ENSP00000444011.2:n.*12+190del
ENST00000622544.4:c.*425del	ENSP00000477796.1:n.*425del
NM_000161.2:c.*425del	NP_000152.1:n.*425del
NM_001024024.1:c.*16+409del	NP_001019195.1:n.*16+409del
NM_001024070.1:c.*12+190del	NP_001019241.1:n.*12+190del
NM_001024071.1:c.627-538del	NP_001019242.1:n.627-538del
XM_005267530.1:c.*202del	XP_005267587.1:n.*202del
XM_017021218.1:c.*425del	XP_016876707.1:n.*425del
NM_000161.3:c.*425del MANE Select	NP_000152.1:n.*425del
NM_001024070.2:c.*12+190del	NP_001019241.1:n.*12+190del
NM_001024071.2:c.627-538del	NP_001019242.1:n.627-538del
NM_001024024.2:c.*16+409del	NP_001019195.1:n.*16+409del