Canonical Allele Identifier: CA2695219293

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844032_54844033del , CM000676.2:g.54844032_54844033del	GRCh38
NC_000014.8:g.55310750_55310751del , CM000676.1:g.55310750_55310751del	GRCh37
NC_000014.7:g.54380500_54380501del	NCBI36
NG_008647.1:g.63795_63796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.740_741del MANE Select	ENSP00000419045.2:p.Leu247HisfsTer2
ENST00000254299.8:n.888_889del
ENST00000395514.5:c.740_741del	ENSP00000378890.1:p.Leu247HisfsTer2
ENST00000395521.6:n.293-976_293-975del
ENST00000491895.6:c.740_741del	ENSP00000419045.2:p.Leu247HisfsTer2
ENST00000536224.2:c.627-976_627-975del	ENSP00000445246.2:n.627-976_627-975del
ENST00000543643.6:c.627-161_627-160del	ENSP00000444011.2:n.627-161_627-160del
ENST00000622544.4:c.740_741del	ENSP00000477796.1:p.Leu247HisfsTer2
NM_000161.2:c.740_741del	NP_000152.1:p.Leu247HisfsTer2
NM_001024024.1:c.740_741del	NP_001019195.1:p.Leu247HisfsTer2
NM_001024070.1:c.627-161_627-160del	NP_001019241.1:n.627-161_627-160del
NM_001024071.1:c.627-976_627-975del	NP_001019242.1:n.627-976_627-975del
XM_005267530.1:c.627-161_627-160del	XP_005267587.1:n.627-161_627-160del
XM_017021218.1:c.446_447del	XP_016876707.1:p.Leu149HisfsTer2
NM_000161.3:c.740_741del MANE Select	NP_000152.1:p.Leu247HisfsTer2
NM_001024070.2:c.627-161_627-160del	NP_001019241.1:n.627-161_627-160del
NM_001024071.2:c.627-976_627-975del	NP_001019242.1:n.627-976_627-975del
NM_001024024.2:c.740_741del	NP_001019195.1:p.Leu247HisfsTer2