Canonical Allele Identifier: CA2624944541

Gene: GCH1

Linked Data

• gnomAD v4: 14-54843714-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843715del , CM000676.2:g.54843715del	GRCh38
NC_000014.8:g.55310433del , CM000676.1:g.55310433del	GRCh37
NC_000014.7:g.54380183del	NCBI36
NG_008647.1:g.64110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*302del MANE Select	ENSP00000419045.2:n.*302del
ENST00000254299.8:n.1203del
ENST00000395514.5:c.*16+286del	ENSP00000378890.1:n.*16+286del
ENST00000395521.6:n.293-661del
ENST00000491895.6:c.*302del	ENSP00000419045.2:n.*302del
ENST00000536224.2:c.627-661del	ENSP00000445246.2:n.627-661del
ENST00000543643.6:c.*12+67del	ENSP00000444011.2:n.*12+67del
ENST00000622544.4:c.*302del	ENSP00000477796.1:n.*302del
NM_000161.2:c.*302del	NP_000152.1:n.*302del
NM_001024024.1:c.*16+286del	NP_001019195.1:n.*16+286del
NM_001024070.1:c.*12+67del	NP_001019241.1:n.*12+67del
NM_001024071.1:c.627-661del	NP_001019242.1:n.627-661del
XM_005267530.1:c.*79del	XP_005267587.1:n.*79del
XM_017021218.1:c.*302del	XP_016876707.1:n.*302del
NM_000161.3:c.*302del MANE Select	NP_000152.1:n.*302del
NM_001024070.2:c.*12+67del	NP_001019241.1:n.*12+67del
NM_001024071.2:c.627-661del	NP_001019242.1:n.627-661del
NM_001024024.2:c.*16+286del	NP_001019195.1:n.*16+286del