Canonical Allele Identifier: CA2138219048

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845996_54846000delinsTTGTC , CM000676.2:g.54845996_54846000delinsTTGTC	GRCh38
NC_000014.8:g.55312714_55312718delinsTTGTC , CM000676.1:g.55312714_55312718delinsTTGTC	GRCh37
NC_000014.7:g.54382464_54382468delinsTTGTC	NCBI36
NG_008647.1:g.61825_61829delinsGACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.542-148_542-144delinsGACAA MANE Select	ENSP00000419045.2:n.542-148_542-144delinsGACAA
ENST00000254299.8:n.690-148_690-144delinsGACAA
ENST00000395514.5:c.542-148_542-144delinsGACAA	ENSP00000378890.1:n.542-148_542-144delinsGACAA
ENST00000395521.6:n.293-2946_293-2942delinsGACAA
ENST00000491895.6:c.542-148_542-144delinsGACAA	ENSP00000419045.2:n.542-148_542-144delinsGACAA
ENST00000536224.2:c.542-148_542-144delinsGACAA	ENSP00000445246.2:n.542-148_542-144delinsGACAA
ENST00000543643.6:c.542-148_542-144delinsGACAA	ENSP00000444011.2:n.542-148_542-144delinsGACAA
ENST00000622544.4:c.542-148_542-144delinsGACAA	ENSP00000477796.1:n.542-148_542-144delinsGACAA
NM_000161.2:c.542-148_542-144delinsGACAA	NP_000152.1:n.542-148_542-144delinsGACAA
NM_001024024.1:c.542-148_542-144delinsGACAA	NP_001019195.1:n.542-148_542-144delinsGACAA
NM_001024070.1:c.542-148_542-144delinsGACAA	NP_001019241.1:n.542-148_542-144delinsGACAA
NM_001024071.1:c.542-148_542-144delinsGACAA	NP_001019242.1:n.542-148_542-144delinsGACAA
XM_005267530.1:c.542-148_542-144delinsGACAA	XP_005267587.1:n.542-148_542-144delinsGACAA
XM_017021218.1:c.248-148_248-144delinsGACAA	XP_016876707.1:n.248-148_248-144delinsGACAA
NM_000161.3:c.542-148_542-144delinsGACAA MANE Select	NP_000152.1:n.542-148_542-144delinsGACAA
NM_001024070.2:c.542-148_542-144delinsGACAA	NP_001019241.1:n.542-148_542-144delinsGACAA
NM_001024071.2:c.542-148_542-144delinsGACAA	NP_001019242.1:n.542-148_542-144delinsGACAA
NM_001024024.2:c.542-148_542-144delinsGACAA	NP_001019195.1:n.542-148_542-144delinsGACAA