Canonical Allele Identifier: CA549264536

Gene: IDUA

Linked Data

• dbSNP Id: rs1560548079
• gnomAD v2: 4-996169-AGCGCAC-A
• MyVariant Identifiers: chr4:g.996170_996175del (hg19) ; chr4:g.1002382_1002387del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002384_1002389del , CM000666.2:g.1002384_1002389del	GRCh38
NC_000004.11:g.996172_996177del , CM000666.1:g.996172_996177del	GRCh37
NC_000004.10:g.986172_986177del	NCBI36
NG_008103.1:g.20388_20393del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1088_1093del	ENSP00000247933.4:p.Arg363_Thr364del
ENST00000514224.2:c.1088_1093del MANE Select	ENSP00000425081.2:p.Arg363_Thr364del
ENST00000652070.1:n.1144_1149del
ENST00000247933.8:c.1088_1093del	ENSP00000247933.4:p.Arg363_Thr364del
ENST00000514224.1:c.692_697del	ENSP00000425081.1:p.Arg231_Thr232del
ENST00000514698.5:n.1195_1200del
NM_000203.4:c.1088_1093del	NP_000194.2:p.Arg363_Thr364del
NR_110313.1:n.1176_1181del
XM_006713882.2:c.692_697del	XP_006713945.1:p.Arg231_Thr232del
XM_011513459.1:c.1154_1159del	XP_011511761.1:p.Arg385_Thr386del
XM_011513460.1:c.947_952del	XP_011511762.1:p.Arg316_Thr317del
XM_011513461.1:c.881_886del	XP_011511763.1:p.Arg294_Thr295del
XM_011513462.1:c.800_805del	XP_011511764.1:p.Arg267_Thr268del
XM_011513463.1:c.800_805del	XP_011511765.1:p.Arg267_Thr268del
XR_924947.1:n.1157_1162del
NM_000203.5:c.1088_1093del MANE Select	NP_000194.2:p.Arg363_Thr364del
NM_001363576.1:c.692_697del	NP_001350505.1:p.Arg231_Thr232del
XM_011513461.2:c.881_886del	XP_011511763.1:p.Arg294_Thr295del
XM_017008163.1:c.128_133del	XP_016863652.1:p.Arg43_Thr44del