Canonical Allele Identifier: CA2138238281

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54884005_54884006delinsAT , CM000676.2:g.54884005_54884006delinsAT	GRCh38
NC_000014.8:g.55350723_55350724delinsAT , CM000676.1:g.55350723_55350724delinsAT	GRCh37
NC_000014.7:g.54420473_54420474delinsAT	NCBI36
NG_008647.1:g.23819_23820delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.343+18315_343+18316delinsAT MANE Select	ENSP00000419045.2:n.343+18315_343+18316de...
ENST00000254299.8:n.491+18315_491+18316delinsAT
ENST00000395514.5:c.343+18315_343+18316delinsAT	ENSP00000378890.1:n.343+18315_343+18316de...
ENST00000395521.6:n.126+18315_126+18316delinsAT
ENST00000491895.6:c.343+18315_343+18316delinsAT	ENSP00000419045.2:n.343+18315_343+18316de...
ENST00000536224.2:c.343+18315_343+18316delinsAT	ENSP00000445246.2:n.343+18315_343+18316de...
ENST00000543643.6:c.343+18315_343+18316delinsAT	ENSP00000444011.2:n.343+18315_343+18316de...
ENST00000622544.4:c.343+18315_343+18316delinsAT	ENSP00000477796.1:n.343+18315_343+18316de...
NM_000161.2:c.343+18315_343+18316delinsAT	NP_000152.1:n.343+18315_343+18316delinsAT...
NM_001024024.1:c.343+18315_343+18316delinsAT	NP_001019195.1:n.343+18315_343+18316delin...
NM_001024070.1:c.343+18315_343+18316delinsAT	NP_001019241.1:n.343+18315_343+18316delin...
NM_001024071.1:c.343+18315_343+18316delinsAT	NP_001019242.1:n.343+18315_343+18316delin...
XM_005267530.1:c.343+18315_343+18316delinsAT	XP_005267587.1:n.343+18315_343+18316delin...
XM_011536643.1:c.343+18315_343+18316delinsAT	XP_011534945.1:n.343+18315_343+18316delin...
NM_000161.3:c.343+18315_343+18316delinsAT MANE Select	NP_000152.1:n.343+18315_343+18316delinsAT...
NM_001024070.2:c.343+18315_343+18316delinsAT	NP_001019241.1:n.343+18315_343+18316delin...
NM_001024071.2:c.343+18315_343+18316delinsAT	NP_001019242.1:n.343+18315_343+18316delin...
NM_001024024.2:c.343+18315_343+18316delinsAT	NP_001019195.1:n.343+18315_343+18316delin...