Canonical Allele Identifier: CA2695219298

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844107_54844110del , CM000676.2:g.54844107_54844110del	GRCh38
NC_000014.8:g.55310825_55310828del , CM000676.1:g.55310825_55310828del	GRCh37
NC_000014.7:g.54380575_54380578del	NCBI36
NG_008647.1:g.63717_63720del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.662_665del MANE Select	ENSP00000419045.2:p.Met221ThrfsTer5
ENST00000254299.8:n.810_813del
ENST00000395514.5:c.662_665del	ENSP00000378890.1:p.Met221ThrfsTer5
ENST00000395521.6:n.293-1054_293-1051del
ENST00000491895.6:c.662_665del	ENSP00000419045.2:p.Met221ThrfsTer5
ENST00000536224.2:c.627-1054_627-1051del	ENSP00000445246.2:n.627-1054_627-1051del
ENST00000543643.6:c.627-239_627-236del	ENSP00000444011.2:n.627-239_627-236del
ENST00000622544.4:c.662_665del	ENSP00000477796.1:p.Met221ThrfsTer5
NM_000161.2:c.662_665del	NP_000152.1:p.Met221ThrfsTer5
NM_001024024.1:c.662_665del	NP_001019195.1:p.Met221ThrfsTer5
NM_001024070.1:c.627-239_627-236del	NP_001019241.1:n.627-239_627-236del
NM_001024071.1:c.627-1054_627-1051del	NP_001019242.1:n.627-1054_627-1051del
XM_005267530.1:c.627-239_627-236del	XP_005267587.1:n.627-239_627-236del
XM_017021218.1:c.368_371del	XP_016876707.1:p.Met123ThrfsTer5
NM_000161.3:c.662_665del MANE Select	NP_000152.1:p.Met221ThrfsTer5
NM_001024070.2:c.627-239_627-236del	NP_001019241.1:n.627-239_627-236del
NM_001024071.2:c.627-1054_627-1051del	NP_001019242.1:n.627-1054_627-1051del
NM_001024024.2:c.662_665del	NP_001019195.1:p.Met221ThrfsTer5