Canonical Allele Identifier: CA2740097083

Gene: GCH1

Linked Data

• ClinVar Variation Id: 2938609
• ClinVar RCV Id: RCV003799383

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844155_54844159del , CM000676.2:g.54844155_54844159del	GRCh38
NC_000014.8:g.55310873_55310877del , CM000676.1:g.55310873_55310877del	GRCh37
NC_000014.7:g.54380623_54380627del	NCBI36
NG_008647.1:g.63668_63672del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.627-14_627-10del MANE Select	ENSP00000419045.2:n.627-14_627-10del
ENST00000254299.8:n.775-14_775-10del
ENST00000395514.5:c.627-14_627-10del	ENSP00000378890.1:n.627-14_627-10del
ENST00000395521.6:n.293-1103_293-1099del
ENST00000491895.6:c.627-14_627-10del	ENSP00000419045.2:n.627-14_627-10del
ENST00000536224.2:c.627-1103_627-1099del	ENSP00000445246.2:n.627-1103_627-1099del
ENST00000543643.6:c.627-288_627-284del	ENSP00000444011.2:n.627-288_627-284del
ENST00000622544.4:c.627-14_627-10del	ENSP00000477796.1:n.627-14_627-10del
NM_000161.2:c.627-14_627-10del	NP_000152.1:n.627-14_627-10del
NM_001024024.1:c.627-14_627-10del	NP_001019195.1:n.627-14_627-10del
NM_001024070.1:c.627-288_627-284del	NP_001019241.1:n.627-288_627-284del
NM_001024071.1:c.627-1103_627-1099del	NP_001019242.1:n.627-1103_627-1099del
XM_005267530.1:c.627-288_627-284del	XP_005267587.1:n.627-288_627-284del
XM_017021218.1:c.333-14_333-10del	XP_016876707.1:n.333-14_333-10del
NM_000161.3:c.627-14_627-10del MANE Select	NP_000152.1:n.627-14_627-10del
NM_001024070.2:c.627-288_627-284del	NP_001019241.1:n.627-288_627-284del
NM_001024071.2:c.627-1103_627-1099del	NP_001019242.1:n.627-1103_627-1099del
NM_001024024.2:c.627-14_627-10del	NP_001019195.1:n.627-14_627-10del