Canonical Allele Identifier: CA2801650460

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844671_54844672del , CM000676.2:g.54844671_54844672del	GRCh38
NC_000014.8:g.55311389_55311390del , CM000676.1:g.55311389_55311390del	GRCh37
NC_000014.7:g.54381139_54381140del	NCBI36
NG_008647.1:g.63154_63155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.627-528_627-527del MANE Select	ENSP00000419045.2:n.627-528_627-527del
ENST00000254299.8:n.775-528_775-527del
ENST00000395514.5:c.627-528_627-527del	ENSP00000378890.1:n.627-528_627-527del
ENST00000395521.6:n.293-1617_293-1616del
ENST00000491895.6:c.627-528_627-527del	ENSP00000419045.2:n.627-528_627-527del
ENST00000536224.2:c.626+1097_626+1098del	ENSP00000445246.2:n.626+1097_626+1098del
ENST00000543643.6:c.627-802_627-801del	ENSP00000444011.2:n.627-802_627-801del
ENST00000622544.4:c.627-528_627-527del	ENSP00000477796.1:n.627-528_627-527del
NM_000161.2:c.627-528_627-527del	NP_000152.1:n.627-528_627-527del
NM_001024024.1:c.627-528_627-527del	NP_001019195.1:n.627-528_627-527del
NM_001024070.1:c.627-802_627-801del	NP_001019241.1:n.627-802_627-801del
NM_001024071.1:c.626+1097_626+1098del	NP_001019242.1:n.626+1097_626+1098del
XM_005267530.1:c.627-802_627-801del	XP_005267587.1:n.627-802_627-801del
XM_017021218.1:c.333-528_333-527del	XP_016876707.1:n.333-528_333-527del
NM_000161.3:c.627-528_627-527del MANE Select	NP_000152.1:n.627-528_627-527del
NM_001024070.2:c.627-802_627-801del	NP_001019241.1:n.627-802_627-801del
NM_001024071.2:c.626+1097_626+1098del	NP_001019242.1:n.626+1097_626+1098del
NM_001024024.2:c.627-528_627-527del	NP_001019195.1:n.627-528_627-527del