Canonical Allele Identifier: CA2138218219

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844137_54844139delinsCAT , CM000676.2:g.54844137_54844139delinsCAT	GRCh38
NC_000014.8:g.55310855_55310857delinsCAT , CM000676.1:g.55310855_55310857delinsCAT	GRCh37
NC_000014.7:g.54380605_54380607delinsCAT	NCBI36
NG_008647.1:g.63686_63688delinsATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.631_633delinsATG MANE Select	ENSP00000419045.2:p.Met211=
ENST00000254299.8:n.779_781delinsATG
ENST00000395514.5:c.631_633delinsATG	ENSP00000378890.1:p.Met211=
ENST00000395521.6:n.293-1085_293-1083delinsATG
ENST00000491895.6:c.631_633delinsATG	ENSP00000419045.2:p.Met211=
ENST00000536224.2:c.627-1085_627-1083delinsATG	ENSP00000445246.2:n.627-1085_627-1083deli...
ENST00000543643.6:c.627-270_627-268delinsATG	ENSP00000444011.2:n.627-270_627-268delins...
ENST00000622544.4:c.631_633delinsATG	ENSP00000477796.1:p.Met211=
NM_000161.2:c.631_633delinsATG	NP_000152.1:p.Met211=
NM_001024024.1:c.631_633delinsATG	NP_001019195.1:p.Met211=
NM_001024070.1:c.627-270_627-268delinsATG	NP_001019241.1:n.627-270_627-268delinsATG...
NM_001024071.1:c.627-1085_627-1083delinsATG	NP_001019242.1:n.627-1085_627-1083delinsA...
XM_005267530.1:c.627-270_627-268delinsATG	XP_005267587.1:n.627-270_627-268delinsATG...
XM_017021218.1:c.337_339delinsATG	XP_016876707.1:p.Met113=
NM_000161.3:c.631_633delinsATG MANE Select	NP_000152.1:p.Met211=
NM_001024070.2:c.627-270_627-268delinsATG	NP_001019241.1:n.627-270_627-268delinsATG...
NM_001024071.2:c.627-1085_627-1083delinsATG	NP_001019242.1:n.627-1085_627-1083delinsA...
NM_001024024.2:c.631_633delinsATG	NP_001019195.1:p.Met211=