Canonical Allele Identifier: CA2695219292

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844025del , CM000676.2:g.54844025del	GRCh38
NC_000014.8:g.55310743del , CM000676.1:g.55310743del	GRCh37
NC_000014.7:g.54380493del	NCBI36
NG_008647.1:g.63800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.745del MANE Select	ENSP00000419045.2:p.Arg249GlyfsTer?
ENST00000254299.8:n.893del
ENST00000395514.5:c.745del	ENSP00000378890.1:p.Arg249GlyfsTer25
ENST00000395521.6:n.293-971del
ENST00000491895.6:c.745del	ENSP00000419045.2:p.Arg249GlyfsTer?
ENST00000536224.2:c.627-971del	ENSP00000445246.2:n.627-971del
ENST00000543643.6:c.627-156del	ENSP00000444011.2:n.627-156del
ENST00000622544.4:c.745del	ENSP00000477796.1:p.Arg249GlyfsTer?
NM_000161.2:c.745del	NP_000152.1:p.Arg249GlyfsTer?
NM_001024024.1:c.745del	NP_001019195.1:p.Arg249GlyfsTer25
NM_001024070.1:c.627-156del	NP_001019241.1:n.627-156del
NM_001024071.1:c.627-971del	NP_001019242.1:n.627-971del
XM_005267530.1:c.627-156del	XP_005267587.1:n.627-156del
XM_017021218.1:c.451del	XP_016876707.1:p.Arg151GlyfsTer?
NM_000161.3:c.745del MANE Select	NP_000152.1:p.Arg249GlyfsTer?
NM_001024070.2:c.627-156del	NP_001019241.1:n.627-156del
NM_001024071.2:c.627-971del	NP_001019242.1:n.627-971del
NM_001024024.2:c.745del	NP_001019195.1:p.Arg249GlyfsTer25