Canonical Allele Identifier: CA784303421

Gene: IDUA

Linked Data

• dbSNP Id: rs1490024107
• MyVariant Identifiers: chr4:g.995522_995524del (hg19) ; chr4:g.1001734_1001736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001734_1001736del , CM000666.2:g.1001734_1001736del	GRCh38
NC_000004.11:g.995522_995524del , CM000666.1:g.995522_995524del	GRCh37
NC_000004.10:g.985522_985524del	NCBI36
NG_008103.1:g.19738_19740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.645_647del	ENSP00000247933.4:p.Leu216del
ENST00000514224.2:c.645_647del MANE Select	ENSP00000425081.2:p.Leu216del
ENST00000652070.1:n.701_703del
ENST00000247933.8:c.645_647del	ENSP00000247933.4:p.Leu216del
ENST00000502910.5:c.504_506del	ENSP00000422952.1:p.Leu169del
ENST00000509948.5:c.438_440del	ENSP00000424227.1:p.Leu147del
ENST00000514192.5:c.462_464del	ENSP00000423685.1:p.Leu155del
ENST00000514224.1:c.249_251del	ENSP00000425081.1:p.Leu84del
ENST00000514698.5:n.545_547del
NM_000203.4:c.645_647del	NP_000194.2:p.Leu216del
NR_110313.1:n.733_735del
XM_006713882.2:c.249_251del	XP_006713945.1:p.Leu84del
XM_011513459.1:c.504_506del	XP_011511761.1:p.Leu169del
XM_011513460.1:c.504_506del	XP_011511762.1:p.Leu169del
XM_011513461.1:c.438_440del	XP_011511763.1:p.Leu147del
XM_011513462.1:c.357_359del	XP_011511764.1:p.Leu120del
XM_011513463.1:c.357_359del	XP_011511765.1:p.Leu120del
XR_924947.1:n.714_716del
NM_000203.5:c.645_647del MANE Select	NP_000194.2:p.Leu216del
NM_001363576.1:c.249_251del	NP_001350505.1:p.Leu84del
XM_011513461.2:c.438_440del	XP_011511763.1:p.Leu147del
XM_017008163.1:c.-316_-314del	XP_016863652.1:n.-316_-314del