Canonical Allele Identifier: CA2624944984

Gene: GCH1

Linked Data

• gnomAD v4: 14-54845838-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845840del , CM000676.2:g.54845840del	GRCh38
NC_000014.8:g.55312558del , CM000676.1:g.55312558del	GRCh37
NC_000014.7:g.54382308del	NCBI36
NG_008647.1:g.61986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.555del MANE Select	ENSP00000419045.2:p.Thr186GlnfsTer6
ENST00000254299.8:n.703del
ENST00000395514.5:c.555del	ENSP00000378890.1:p.Thr186GlnfsTer6
ENST00000395521.6:n.293-2785del
ENST00000491895.6:c.555del	ENSP00000419045.2:p.Thr186GlnfsTer6
ENST00000536224.2:c.555del	ENSP00000445246.2:p.Thr186GlnfsTer6
ENST00000543643.6:c.555del	ENSP00000444011.2:p.Thr186GlnfsTer6
ENST00000622544.4:c.555del	ENSP00000477796.1:p.Thr186GlnfsTer6
NM_000161.2:c.555del	NP_000152.1:p.Thr186GlnfsTer6
NM_001024024.1:c.555del	NP_001019195.1:p.Thr186GlnfsTer6
NM_001024070.1:c.555del	NP_001019241.1:p.Thr186GlnfsTer6
NM_001024071.1:c.555del	NP_001019242.1:p.Thr186GlnfsTer6
XM_005267530.1:c.555del	XP_005267587.1:p.Thr186GlnfsTer6
XM_017021218.1:c.261del	XP_016876707.1:p.Thr88GlnfsTer6
NM_000161.3:c.555del MANE Select	NP_000152.1:p.Thr186GlnfsTer6
NM_001024070.2:c.555del	NP_001019241.1:p.Thr186GlnfsTer6
NM_001024071.2:c.555del	NP_001019242.1:p.Thr186GlnfsTer6
NM_001024024.2:c.555del	NP_001019195.1:p.Thr186GlnfsTer6