Canonical Allele Identifier: CA2138251238

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902005_54902007delinsCGA , CM000676.2:g.54902005_54902007delinsCGA	GRCh38
NC_000014.8:g.55368723_55368725delinsCGA , CM000676.1:g.55368723_55368725delinsCGA	GRCh37
NC_000014.7:g.54438473_54438475delinsCGA	NCBI36
NG_008647.1:g.5818_5820delinsTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.343+314_343+316delinsTCG MANE Select	ENSP00000419045.2:n.343+314_343+316delinsTCG
ENST00000254299.8:n.491+314_491+316delinsTCG
ENST00000395514.5:c.343+314_343+316delinsTCG	ENSP00000378890.1:n.343+314_343+316delinsTCG
ENST00000395521.6:n.126+314_126+316delinsTCG
ENST00000491895.6:c.343+314_343+316delinsTCG	ENSP00000419045.2:n.343+314_343+316delinsTCG
ENST00000536224.2:c.343+314_343+316delinsTCG	ENSP00000445246.2:n.343+314_343+316delinsTCG
ENST00000543643.6:c.343+314_343+316delinsTCG	ENSP00000444011.2:n.343+314_343+316delinsTCG
ENST00000622544.4:c.343+314_343+316delinsTCG	ENSP00000477796.1:n.343+314_343+316delinsTCG
NM_000161.2:c.343+314_343+316delinsTCG	NP_000152.1:n.343+314_343+316delinsTCG
NM_001024024.1:c.343+314_343+316delinsTCG	NP_001019195.1:n.343+314_343+316delinsTCG
NM_001024070.1:c.343+314_343+316delinsTCG	NP_001019241.1:n.343+314_343+316delinsTCG
NM_001024071.1:c.343+314_343+316delinsTCG	NP_001019242.1:n.343+314_343+316delinsTCG
XM_005267530.1:c.343+314_343+316delinsTCG	XP_005267587.1:n.343+314_343+316delinsTCG
XM_011536643.1:c.343+314_343+316delinsTCG	XP_011534945.1:n.343+314_343+316delinsTCG
NM_000161.3:c.343+314_343+316delinsTCG MANE Select	NP_000152.1:n.343+314_343+316delinsTCG
NM_001024070.2:c.343+314_343+316delinsTCG	NP_001019241.1:n.343+314_343+316delinsTCG
NM_001024071.2:c.343+314_343+316delinsTCG	NP_001019242.1:n.343+314_343+316delinsTCG
NM_001024024.2:c.343+314_343+316delinsTCG	NP_001019195.1:n.343+314_343+316delinsTCG