Canonical Allele Identifier: CA260531687

Gene: GCH1

Linked Data

• dbSNP Id: rs992469347
• gnomAD v2: 14-55368723-CGA-C
• gnomAD v3: 14-54902005-CGA-C
• gnomAD v4: 14-54902005-CGA-C
• MyVariant Identifiers: chr14:g.55368724_55368725del (hg19) ; chr14:g.54902006_54902007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902009_54902010del , CM000676.2:g.54902009_54902010del	GRCh38
NC_000014.8:g.55368727_55368728del , CM000676.1:g.55368727_55368728del	GRCh37
NC_000014.7:g.54438477_54438478del	NCBI36
NG_008647.1:g.5818_5819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.343+314_343+315del MANE Select	ENSP00000419045.2:n.343+314_343+315del
ENST00000254299.8:n.491+314_491+315del
ENST00000395514.5:c.343+314_343+315del	ENSP00000378890.1:n.343+314_343+315del
ENST00000395521.6:n.126+314_126+315del
ENST00000491895.6:c.343+314_343+315del	ENSP00000419045.2:n.343+314_343+315del
ENST00000536224.2:c.343+314_343+315del	ENSP00000445246.2:n.343+314_343+315del
ENST00000543643.6:c.343+314_343+315del	ENSP00000444011.2:n.343+314_343+315del
ENST00000622544.4:c.343+314_343+315del	ENSP00000477796.1:n.343+314_343+315del
NM_000161.2:c.343+314_343+315del	NP_000152.1:n.343+314_343+315del
NM_001024024.1:c.343+314_343+315del	NP_001019195.1:n.343+314_343+315del
NM_001024070.1:c.343+314_343+315del	NP_001019241.1:n.343+314_343+315del
NM_001024071.1:c.343+314_343+315del	NP_001019242.1:n.343+314_343+315del
XM_005267530.1:c.343+314_343+315del	XP_005267587.1:n.343+314_343+315del
XM_011536643.1:c.343+314_343+315del	XP_011534945.1:n.343+314_343+315del
NM_000161.3:c.343+314_343+315del MANE Select	NP_000152.1:n.343+314_343+315del
NM_001024070.2:c.343+314_343+315del	NP_001019241.1:n.343+314_343+315del
NM_001024071.2:c.343+314_343+315del	NP_001019242.1:n.343+314_343+315del
NM_001024024.2:c.343+314_343+315del	NP_001019195.1:n.343+314_343+315del