Canonical Allele Identifier: CA2580618004

Gene: GCH1

Linked Data

• ClinVar Variation Id: 2578717
• ClinVar RCV Id: RCV003326893

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844142_54844143del , CM000676.2:g.54844142_54844143del	GRCh38
NC_000014.8:g.55310860_55310861del , CM000676.1:g.55310860_55310861del	GRCh37
NC_000014.7:g.54380610_54380611del	NCBI36
NG_008647.1:g.63685_63686del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.630_631del MANE Select	ENSP00000419045.2:p.Met211ValfsTer?
ENST00000254299.8:n.778_779del
ENST00000395514.5:c.630_631del	ENSP00000378890.1:p.Met211ValfsTer?
ENST00000395521.6:n.293-1086_293-1085del
ENST00000491895.6:c.630_631del	ENSP00000419045.2:p.Met211ValfsTer?
ENST00000536224.2:c.627-1086_627-1085del	ENSP00000445246.2:n.627-1086_627-1085del
ENST00000543643.6:c.627-271_627-270del	ENSP00000444011.2:n.627-271_627-270del
ENST00000622544.4:c.630_631del	ENSP00000477796.1:p.Met211ValfsTer?
NM_000161.2:c.630_631del	NP_000152.1:p.Met211ValfsTer?
NM_001024024.1:c.630_631del	NP_001019195.1:p.Met211ValfsTer?
NM_001024070.1:c.627-271_627-270del	NP_001019241.1:n.627-271_627-270del
NM_001024071.1:c.627-1086_627-1085del	NP_001019242.1:n.627-1086_627-1085del
XM_005267530.1:c.627-271_627-270del	XP_005267587.1:n.627-271_627-270del
XM_017021218.1:c.336_337del	XP_016876707.1:p.Met113ValfsTer?
NM_000161.3:c.630_631del MANE Select	NP_000152.1:p.Met211ValfsTer?
NM_001024070.2:c.627-271_627-270del	NP_001019241.1:n.627-271_627-270del
NM_001024071.2:c.627-1086_627-1085del	NP_001019242.1:n.627-1086_627-1085del
NM_001024024.2:c.630_631del	NP_001019195.1:p.Met211ValfsTer?