Canonical Allele Identifier: CA1433067439

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001537_1001551delinsTTGACAACGTCTCCA , CM000666.2:g.1001537_1001551delinsTTGACAACGTCTCCA	GRCh38
NC_000004.11:g.995325_995339delinsTTGACAACGTCTCCA , CM000666.1:g.995325_995339delinsTTGACAACGTCTCCA	GRCh37
NC_000004.10:g.985325_985339delinsTTGACAACGTCTCCA	NCBI36
NG_008103.1:g.19541_19555delinsTTGACAACGTCTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.563_577delinsTTGACAACGTCTCCA	ENSP00000247933.4:p.Phe188=
ENST00000514224.2:c.563_577delinsTTGACAACGTCTCCA MANE Select	ENSP00000425081.2:p.Phe188=
ENST00000652070.1:n.619_633delinsTTGACAACGTCTCCA
ENST00000247933.8:c.563_577delinsTTGACAACGTCTCCA	ENSP00000247933.4:p.Phe188=
ENST00000502910.5:c.422_436delinsTTGACAACGTCTCCA	ENSP00000422952.1:p.Phe141=
ENST00000504568.5:c.523_537delinsTTGACAACGTCTCCA
ENST00000509948.5:c.356_370delinsTTGACAACGTCTCCA	ENSP00000424227.1:p.Phe119=
ENST00000514192.5:c.380_394delinsTTGACAACGTCTCCA	ENSP00000423685.1:p.Phe127=
ENST00000514224.1:c.167_181delinsTTGACAACGTCTCCA	ENSP00000425081.1:p.Phe56=
ENST00000514698.5:n.463_477delinsTTGACAACGTCTCCA
NM_000203.4:c.563_577delinsTTGACAACGTCTCCA	NP_000194.2:p.Phe188=
NR_110313.1:n.651_665delinsTTGACAACGTCTCCA
XM_006713882.2:c.167_181delinsTTGACAACGTCTCCA	XP_006713945.1:p.Phe56=
XM_011513459.1:c.422_436delinsTTGACAACGTCTCCA	XP_011511761.1:p.Phe141=
XM_011513460.1:c.422_436delinsTTGACAACGTCTCCA	XP_011511762.1:p.Phe141=
XM_011513461.1:c.356_370delinsTTGACAACGTCTCCA	XP_011511763.1:p.Phe119=
XM_011513462.1:c.275_289delinsTTGACAACGTCTCCA	XP_011511764.1:p.Phe92=
XM_011513463.1:c.275_289delinsTTGACAACGTCTCCA	XP_011511765.1:p.Phe92=
XR_924947.1:n.632_646delinsTTGACAACGTCTCCA
NM_000203.5:c.563_577delinsTTGACAACGTCTCCA MANE Select	NP_000194.2:p.Phe188=
NM_001363576.1:c.167_181delinsTTGACAACGTCTCCA	NP_001350505.1:p.Phe56=
XM_011513461.2:c.356_370delinsTTGACAACGTCTCCA	XP_011511763.1:p.Phe119=
XM_017008163.1:c.-426_-412delinsTTGACAACGTCTCCA	XP_016863652.1:n.-426_-412delinsTTGACAACG...