Canonical Allele Identifier: CA2568548957

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54857988_54857989insCT , CM000676.2:g.54857988_54857989insCT	GRCh38
NC_000014.8:g.55324706_55324707insCT , CM000676.1:g.55324706_55324707insCT	GRCh37
NC_000014.7:g.54394456_54394457insCT	NCBI36
NG_008647.1:g.49836_49837insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.509+1692_509+1693insAG MANE Select	ENSP00000419045.2:n.509+1692_509+1693insAG
ENST00000254299.8:n.657+1692_657+1693insAG
ENST00000395514.5:c.509+1692_509+1693insAG	ENSP00000378890.1:n.509+1692_509+1693insAG
ENST00000395521.6:n.292+1692_292+1693insAG
ENST00000491895.6:c.509+1692_509+1693insAG	ENSP00000419045.2:n.509+1692_509+1693insAG
ENST00000536224.2:c.509+1692_509+1693insAG	ENSP00000445246.2:n.509+1692_509+1693insAG
ENST00000543643.6:c.509+1692_509+1693insAG	ENSP00000444011.2:n.509+1692_509+1693insAG
ENST00000622544.4:c.509+1692_509+1693insAG	ENSP00000477796.1:n.509+1692_509+1693insAG
NM_000161.2:c.509+1692_509+1693insAG	NP_000152.1:n.509+1692_509+1693insAG
NM_001024024.1:c.509+1692_509+1693insAG	NP_001019195.1:n.509+1692_509+1693insAG
NM_001024070.1:c.509+1692_509+1693insAG	NP_001019241.1:n.509+1692_509+1693insAG
NM_001024071.1:c.509+1692_509+1693insAG	NP_001019242.1:n.509+1692_509+1693insAG
XM_005267530.1:c.509+1692_509+1693insAG	XP_005267587.1:n.509+1692_509+1693insAG
XM_011536643.1:c.510-1222_510-1221insAG	XP_011534945.1:n.510-1222_510-1221insAG
XM_017021218.1:c.215+1692_215+1693insAG	XP_016876707.1:n.215+1692_215+1693insAG
NM_000161.3:c.509+1692_509+1693insAG MANE Select	NP_000152.1:n.509+1692_509+1693insAG
NM_001024070.2:c.509+1692_509+1693insAG	NP_001019241.1:n.509+1692_509+1693insAG
NM_001024071.2:c.509+1692_509+1693insAG	NP_001019242.1:n.509+1692_509+1693insAG
NM_001024024.2:c.509+1692_509+1693insAG	NP_001019195.1:n.509+1692_509+1693insAG