Canonical Allele Identifier: CA2138236322

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54881399_54881401delinsCCT , CM000676.2:g.54881399_54881401delinsCCT	GRCh38
NC_000014.8:g.55348117_55348119delinsCCT , CM000676.1:g.55348117_55348119delinsCCT	GRCh37
NC_000014.7:g.54417867_54417869delinsCCT	NCBI36
NG_008647.1:g.26424_26426delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.344-15965_344-15963delinsAGG MANE Select	ENSP00000419045.2:n.344-15965_344-15963delinsAGG
ENST00000254299.8:n.492-15965_492-15963delinsAGG
ENST00000395514.5:c.344-15965_344-15963delinsAGG	ENSP00000378890.1:n.344-15965_344-15963delinsAGG
ENST00000395521.6:n.127-15965_127-15963delinsAGG
ENST00000491895.6:c.344-15965_344-15963delinsAGG	ENSP00000419045.2:n.344-15965_344-15963delinsAGG
ENST00000536224.2:c.344-15965_344-15963delinsAGG	ENSP00000445246.2:n.344-15965_344-15963delinsAGG
ENST00000543643.6:c.344-15965_344-15963delinsAGG	ENSP00000444011.2:n.344-15965_344-15963delinsAGG
ENST00000622544.4:c.344-15965_344-15963delinsAGG	ENSP00000477796.1:n.344-15965_344-15963delinsAGG
NM_000161.2:c.344-15965_344-15963delinsAGG	NP_000152.1:n.344-15965_344-15963delinsAGG
NM_001024024.1:c.344-15965_344-15963delinsAGG	NP_001019195.1:n.344-15965_344-15963delinsAGG
NM_001024070.1:c.344-15965_344-15963delinsAGG	NP_001019241.1:n.344-15965_344-15963delinsAGG
NM_001024071.1:c.344-15965_344-15963delinsAGG	NP_001019242.1:n.344-15965_344-15963delinsAGG
XM_005267530.1:c.344-15965_344-15963delinsAGG	XP_005267587.1:n.344-15965_344-15963delinsAGG
XM_011536643.1:c.344-15965_344-15963delinsAGG	XP_011534945.1:n.344-15965_344-15963delinsAGG
XM_017021218.1:c.49+141_49+143delinsAGG	XP_016876707.1:n.49+141_49+143delinsAGG
NM_000161.3:c.344-15965_344-15963delinsAGG MANE Select	NP_000152.1:n.344-15965_344-15963delinsAGG
NM_001024070.2:c.344-15965_344-15963delinsAGG	NP_001019241.1:n.344-15965_344-15963delinsAGG
NM_001024071.2:c.344-15965_344-15963delinsAGG	NP_001019242.1:n.344-15965_344-15963delinsAGG
NM_001024024.2:c.344-15965_344-15963delinsAGG	NP_001019195.1:n.344-15965_344-15963delinsAGG