Canonical Allele Identifier: CA2801994

Gene: IDUA

Linked Data

• dbSNP Id: rs759639526
• ExAC: 4:995325 TTGACAACGTCTCCA / T
• gnomAD v2: 4-995325-TTGACAACGTCTCCA-T
• gnomAD v4: 4-1001537-TTGACAACGTCTCCA-T
• MyVariant Identifiers: chr4:g.995326_995339del (hg19) ; chr4:g.1001538_1001551del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001542_1001555del , CM000666.2:g.1001542_1001555del	GRCh38
NC_000004.11:g.995330_995343del , CM000666.1:g.995330_995343del	GRCh37
NC_000004.10:g.985330_985343del	NCBI36
NG_008103.1:g.19546_19559del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.568_581del	ENSP00000247933.4:p.Asn190HisfsTer?
ENST00000514224.2:c.568_581del MANE Select	ENSP00000425081.2:p.Asn190HisfsTer?
ENST00000652070.1:n.624_637del
ENST00000247933.8:c.568_581del	ENSP00000247933.4:p.Asn190HisfsTer?
ENST00000502910.5:c.427_440del	ENSP00000422952.1:p.Asn143HisfsTer?
ENST00000504568.5:c.528_541del
ENST00000509948.5:c.361_374del	ENSP00000424227.1:p.Asn121HisfsTer?
ENST00000514192.5:c.385_398del	ENSP00000423685.1:p.Asn129HisfsTer?
ENST00000514224.1:c.172_185del	ENSP00000425081.1:p.Asn58HisfsTer?
ENST00000514698.5:n.468_481del
NM_000203.4:c.568_581del	NP_000194.2:p.Asn190HisfsTer?
NR_110313.1:n.656_669del
XM_006713882.2:c.172_185del	XP_006713945.1:p.Asn58HisfsTer?
XM_011513459.1:c.427_440del	XP_011511761.1:p.Asn143HisfsTer?
XM_011513460.1:c.427_440del	XP_011511762.1:p.Asn143HisfsTer?
XM_011513461.1:c.361_374del	XP_011511763.1:p.Asn121HisfsTer?
XM_011513462.1:c.280_293del	XP_011511764.1:p.Asn94HisfsTer?
XM_011513463.1:c.280_293del	XP_011511765.1:p.Asn94HisfsTer?
XR_924947.1:n.637_650del
NM_000203.5:c.568_581del MANE Select	NP_000194.2:p.Asn190HisfsTer?
NM_001363576.1:c.172_185del	NP_001350505.1:p.Asn58HisfsTer?
XM_011513461.2:c.361_374del	XP_011511763.1:p.Asn121HisfsTer?
XM_017008163.1:c.-421_-408del	XP_016863652.1:n.-421_-408del