Canonical Allele Identifier: CA2695219336

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902526_54902527del , CM000676.2:g.54902526_54902527del	GRCh38
NC_000014.8:g.55369244_55369245del , CM000676.1:g.55369244_55369245del	GRCh37
NC_000014.7:g.54438994_54438995del	NCBI36
NG_008647.1:g.5302_5303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.141_142del MANE Select	ENSP00000419045.2:p.Gln48AlafsTer16
ENST00000254299.8:n.289_290del
ENST00000395514.5:c.141_142del	ENSP00000378890.1:p.Gln48AlafsTer16
ENST00000491895.6:c.141_142del	ENSP00000419045.2:p.Gln48AlafsTer16
ENST00000536224.2:c.141_142del	ENSP00000445246.2:p.Gln48AlafsTer16
ENST00000543643.6:c.141_142del	ENSP00000444011.2:p.Gln48AlafsTer16
ENST00000622544.4:c.141_142del	ENSP00000477796.1:p.Gln48AlafsTer16
NM_000161.2:c.141_142del	NP_000152.1:p.Gln48AlafsTer16
NM_001024024.1:c.141_142del	NP_001019195.1:p.Gln48AlafsTer16
NM_001024070.1:c.141_142del	NP_001019241.1:p.Gln48AlafsTer16
NM_001024071.1:c.141_142del	NP_001019242.1:p.Gln48AlafsTer16
XM_005267530.1:c.141_142del	XP_005267587.1:p.Gln48AlafsTer16
XM_011536643.1:c.141_142del	XP_011534945.1:p.Gln48AlafsTer16
NM_000161.3:c.141_142del MANE Select	NP_000152.1:p.Gln48AlafsTer16
NM_001024070.2:c.141_142del	NP_001019241.1:p.Gln48AlafsTer16
NM_001024071.2:c.141_142del	NP_001019242.1:p.Gln48AlafsTer16
NM_001024024.2:c.141_142del	NP_001019195.1:p.Gln48AlafsTer16