Canonical Allele Identifier: CA1058437572

Gene: IDUA

Linked Data

• dbSNP Id: rs1715085023
• gnomAD v3: 4-1001685-TGAACTACTAC-T
• gnomAD v4: 4-1001685-TGAACTACTAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001688_1001697del , CM000666.2:g.1001688_1001697del	GRCh38
NC_000004.11:g.995476_995485del , CM000666.1:g.995476_995485del	GRCh37
NC_000004.10:g.985476_985485del	NCBI36
NG_008103.1:g.19692_19701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.599_608del	ENSP00000247933.4:p.Asn200MetfsTer?
ENST00000514224.2:c.599_608del MANE Select	ENSP00000425081.2:p.Asn200MetfsTer?
ENST00000652070.1:n.655_664del
ENST00000247933.8:c.599_608del	ENSP00000247933.4:p.Asn200MetfsTer?
ENST00000502910.5:c.458_467del	ENSP00000422952.1:p.Asn153MetfsTer?
ENST00000504568.5:c.559_568del
ENST00000509948.5:c.392_401del	ENSP00000424227.1:p.Asn131MetfsTer?
ENST00000514192.5:c.416_425del	ENSP00000423685.1:p.Asn139MetfsTer?
ENST00000514224.1:c.203_212del	ENSP00000425081.1:p.Asn68MetfsTer?
ENST00000514698.5:n.499_508del
NM_000203.4:c.599_608del	NP_000194.2:p.Asn200MetfsTer?
NR_110313.1:n.687_696del
XM_006713882.2:c.203_212del	XP_006713945.1:p.Asn68MetfsTer?
XM_011513459.1:c.458_467del	XP_011511761.1:p.Asn153MetfsTer?
XM_011513460.1:c.458_467del	XP_011511762.1:p.Asn153MetfsTer?
XM_011513461.1:c.392_401del	XP_011511763.1:p.Asn131MetfsTer?
XM_011513462.1:c.311_320del	XP_011511764.1:p.Asn104MetfsTer?
XM_011513463.1:c.311_320del	XP_011511765.1:p.Asn104MetfsTer?
XR_924947.1:n.668_677del
NM_000203.5:c.599_608del MANE Select	NP_000194.2:p.Asn200MetfsTer?
NM_001363576.1:c.203_212del	NP_001350505.1:p.Asn68MetfsTer?
XM_011513461.2:c.392_401del	XP_011511763.1:p.Asn131MetfsTer?
XM_017008163.1:c.-362_-353del	XP_016863652.1:n.-362_-353del