Canonical Allele Identifier: CA963338298

Gene: GCH1

Linked Data

• ClinVar Variation Id: 2928087
• ClinVar RCV Id: RCV003786909
• dbSNP Id: rs2040578915
• gnomAD v3: 14-54902305-CCG-C
• gnomAD v4: 14-54902305-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902308_54902309del , CM000676.2:g.54902308_54902309del	GRCh38
NC_000014.8:g.55369026_55369027del , CM000676.1:g.55369026_55369027del	GRCh37
NC_000014.7:g.54438776_54438777del	NCBI36
NG_008647.1:g.5518_5519del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.343+14_343+15del MANE Select	ENSP00000419045.2:n.343+14_343+15del
ENST00000254299.8:n.491+14_491+15del
ENST00000395514.5:c.343+14_343+15del	ENSP00000378890.1:n.343+14_343+15del
ENST00000395521.6:n.126+14_126+15del
ENST00000491895.6:c.343+14_343+15del	ENSP00000419045.2:n.343+14_343+15del
ENST00000536224.2:c.343+14_343+15del	ENSP00000445246.2:n.343+14_343+15del
ENST00000543643.6:c.343+14_343+15del	ENSP00000444011.2:n.343+14_343+15del
ENST00000622544.4:c.343+14_343+15del	ENSP00000477796.1:n.343+14_343+15del
NM_000161.2:c.343+14_343+15del	NP_000152.1:n.343+14_343+15del
NM_001024024.1:c.343+14_343+15del	NP_001019195.1:n.343+14_343+15del
NM_001024070.1:c.343+14_343+15del	NP_001019241.1:n.343+14_343+15del
NM_001024071.1:c.343+14_343+15del	NP_001019242.1:n.343+14_343+15del
XM_005267530.1:c.343+14_343+15del	XP_005267587.1:n.343+14_343+15del
XM_011536643.1:c.343+14_343+15del	XP_011534945.1:n.343+14_343+15del
NM_000161.3:c.343+14_343+15del MANE Select	NP_000152.1:n.343+14_343+15del
NM_001024070.2:c.343+14_343+15del	NP_001019241.1:n.343+14_343+15del
NM_001024071.2:c.343+14_343+15del	NP_001019242.1:n.343+14_343+15del
NM_001024024.2:c.343+14_343+15del	NP_001019195.1:n.343+14_343+15del