Canonical Allele Identifier: CA2695219318

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54865369_54865377dup , CM000676.2:g.54865369_54865377dup	GRCh38
NC_000014.8:g.55332087_55332095dup , CM000676.1:g.55332087_55332095dup	GRCh37
NC_000014.7:g.54401837_54401845dup	NCBI36
NG_008647.1:g.42448_42456dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.403_411dup MANE Select	ENSP00000419045.2:p.Met137_Phe138insIleAs...
ENST00000254299.8:n.551_559dup
ENST00000395514.5:c.403_411dup	ENSP00000378890.1:p.Met137_Phe138insIleAs...
ENST00000395521.6:n.186_194dup
ENST00000491895.6:c.403_411dup	ENSP00000419045.2:p.Met137_Phe138insIleAs...
ENST00000536224.2:c.403_411dup	ENSP00000445246.2:p.Met137_Phe138insIleAs...
ENST00000543643.6:c.403_411dup	ENSP00000444011.2:p.Met137_Phe138insIleAs...
ENST00000622544.4:c.403_411dup	ENSP00000477796.1:p.Met137_Phe138insIleAs...
NM_000161.2:c.403_411dup	NP_000152.1:p.Met137_Phe138insIleAspMet
NM_001024024.1:c.403_411dup	NP_001019195.1:p.Met137_Phe138insIleAspMe...
NM_001024070.1:c.403_411dup	NP_001019241.1:p.Met137_Phe138insIleAspMe...
NM_001024071.1:c.403_411dup	NP_001019242.1:p.Met137_Phe138insIleAspMe...
XM_005267530.1:c.403_411dup	XP_005267587.1:p.Met137_Phe138insIleAspMe...
XM_011536643.1:c.403_411dup	XP_011534945.1:p.Met137_Phe138insIleAspMe...
XM_017021218.1:c.109_117dup	XP_016876707.1:p.Met39_Phe40insIleAspMet
NM_000161.3:c.403_411dup MANE Select	NP_000152.1:p.Met137_Phe138insIleAspMet
NM_001024070.2:c.403_411dup	NP_001019241.1:p.Met137_Phe138insIleAspMe...
NM_001024071.2:c.403_411dup	NP_001019242.1:p.Met137_Phe138insIleAspMe...
NM_001024024.2:c.403_411dup	NP_001019195.1:p.Met137_Phe138insIleAspMe...