Canonical Allele Identifier: CA2138218048

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843722_54843725delinsATTC , CM000676.2:g.54843722_54843725delinsATTC	GRCh38
NC_000014.8:g.55310440_55310443delinsATTC , CM000676.1:g.55310440_55310443delinsATTC	GRCh37
NC_000014.7:g.54380190_54380193delinsATTC	NCBI36
NG_008647.1:g.64100_64103delinsGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*292_*295delinsGAAT MANE Select	ENSP00000419045.2:n.*292_*295delinsGAAT
ENST00000254299.8:n.1193_1196delinsGAAT
ENST00000395514.5:c.*16+276_*16+279delinsGAAT	ENSP00000378890.1:n.*16+276_*16+279delinsGAAT
ENST00000395521.6:n.293-671_293-668delinsGAAT
ENST00000491895.6:c.*292_*295delinsGAAT	ENSP00000419045.2:n.*292_*295delinsGAAT
ENST00000536224.2:c.627-671_627-668delinsGAAT	ENSP00000445246.2:n.627-671_627-668delinsGAAT
ENST00000543643.6:c.*12+57_*12+60delinsGAAT	ENSP00000444011.2:n.*12+57_*12+60delinsGAAT
ENST00000622544.4:c.*292_*295delinsGAAT	ENSP00000477796.1:n.*292_*295delinsGAAT
NM_000161.2:c.*292_*295delinsGAAT	NP_000152.1:n.*292_*295delinsGAAT
NM_001024024.1:c.*16+276_*16+279delinsGAAT	NP_001019195.1:n.*16+276_*16+279delinsGAAT
NM_001024070.1:c.*12+57_*12+60delinsGAAT	NP_001019241.1:n.*12+57_*12+60delinsGAAT
NM_001024071.1:c.627-671_627-668delinsGAAT	NP_001019242.1:n.627-671_627-668delinsGAAT
XM_005267530.1:c.*69_*72delinsGAAT	XP_005267587.1:n.*69_*72delinsGAAT
XM_017021218.1:c.*292_*295delinsGAAT	XP_016876707.1:n.*292_*295delinsGAAT
NM_000161.3:c.*292_*295delinsGAAT MANE Select	NP_000152.1:n.*292_*295delinsGAAT
NM_001024070.2:c.*12+57_*12+60delinsGAAT	NP_001019241.1:n.*12+57_*12+60delinsGAAT
NM_001024071.2:c.627-671_627-668delinsGAAT	NP_001019242.1:n.627-671_627-668delinsGAAT
NM_001024024.2:c.*16+276_*16+279delinsGAAT	NP_001019195.1:n.*16+276_*16+279delinsGAAT