Canonical Allele Identifier: CA2138251501

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902430_54902431delinsGA , CM000676.2:g.54902430_54902431delinsGA	GRCh38
NC_000014.8:g.55369148_55369149delinsGA , CM000676.1:g.55369148_55369149delinsGA	GRCh37
NC_000014.7:g.54438898_54438899delinsGA	NCBI36
NG_008647.1:g.5394_5395delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.233_234delinsTC MANE Select	ENSP00000419045.2:p.Ile78=
ENST00000254299.8:n.381_382delinsTC
ENST00000395514.5:c.233_234delinsTC	ENSP00000378890.1:p.Ile78=
ENST00000395521.6:n.16_17delinsTC
ENST00000491895.6:c.233_234delinsTC	ENSP00000419045.2:p.Ile78=
ENST00000536224.2:c.233_234delinsTC	ENSP00000445246.2:p.Ile78=
ENST00000543643.6:c.233_234delinsTC	ENSP00000444011.2:p.Ile78=
ENST00000622544.4:c.233_234delinsTC	ENSP00000477796.1:p.Ile78=
NM_000161.2:c.233_234delinsTC	NP_000152.1:p.Ile78=
NM_001024024.1:c.233_234delinsTC	NP_001019195.1:p.Ile78=
NM_001024070.1:c.233_234delinsTC	NP_001019241.1:p.Ile78=
NM_001024071.1:c.233_234delinsTC	NP_001019242.1:p.Ile78=
XM_005267530.1:c.233_234delinsTC	XP_005267587.1:p.Ile78=
XM_011536643.1:c.233_234delinsTC	XP_011534945.1:p.Ile78=
NM_000161.3:c.233_234delinsTC MANE Select	NP_000152.1:p.Ile78=
NM_001024070.2:c.233_234delinsTC	NP_001019241.1:p.Ile78=
NM_001024071.2:c.233_234delinsTC	NP_001019242.1:p.Ile78=
NM_001024024.2:c.233_234delinsTC	NP_001019195.1:p.Ile78=