Canonical Allele Identifier: CA2138233950

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54877496_54877497delinsCT , CM000676.2:g.54877496_54877497delinsCT	GRCh38
NC_000014.8:g.55344214_55344215delinsCT , CM000676.1:g.55344214_55344215delinsCT	GRCh37
NC_000014.7:g.54413964_54413965delinsCT	NCBI36
NG_008647.1:g.30328_30329delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.344-12061_344-12060delinsAG MANE Select	ENSP00000419045.2:n.344-12061_344-12060delinsAG
ENST00000254299.8:n.492-12061_492-12060delinsAG
ENST00000395514.5:c.344-12061_344-12060delinsAG	ENSP00000378890.1:n.344-12061_344-12060delinsAG
ENST00000395521.6:n.127-12061_127-12060delinsAG
ENST00000491895.6:c.344-12061_344-12060delinsAG	ENSP00000419045.2:n.344-12061_344-12060delinsAG
ENST00000536224.2:c.344-12061_344-12060delinsAG	ENSP00000445246.2:n.344-12061_344-12060delinsAG
ENST00000543643.6:c.344-12061_344-12060delinsAG	ENSP00000444011.2:n.344-12061_344-12060delinsAG
ENST00000622544.4:c.344-12061_344-12060delinsAG	ENSP00000477796.1:n.344-12061_344-12060delinsAG
NM_000161.2:c.344-12061_344-12060delinsAG	NP_000152.1:n.344-12061_344-12060delinsAG
NM_001024024.1:c.344-12061_344-12060delinsAG	NP_001019195.1:n.344-12061_344-12060delinsAG
NM_001024070.1:c.344-12061_344-12060delinsAG	NP_001019241.1:n.344-12061_344-12060delinsAG
NM_001024071.1:c.344-12061_344-12060delinsAG	NP_001019242.1:n.344-12061_344-12060delinsAG
XM_005267530.1:c.344-12061_344-12060delinsAG	XP_005267587.1:n.344-12061_344-12060delinsAG
XM_011536643.1:c.344-12061_344-12060delinsAG	XP_011534945.1:n.344-12061_344-12060delinsAG
XM_017021218.1:c.49+4045_49+4046delinsAG	XP_016876707.1:n.49+4045_49+4046delinsAG
NM_000161.3:c.344-12061_344-12060delinsAG MANE Select	NP_000152.1:n.344-12061_344-12060delinsAG
NM_001024070.2:c.344-12061_344-12060delinsAG	NP_001019241.1:n.344-12061_344-12060delinsAG
NM_001024071.2:c.344-12061_344-12060delinsAG	NP_001019242.1:n.344-12061_344-12060delinsAG
NM_001024024.2:c.344-12061_344-12060delinsAG	NP_001019195.1:n.344-12061_344-12060delinsAG