Canonical Allele Identifier: CA549264581

Gene: IDUA

Linked Data

• gnomAD v2: 4-997087-TC-T
• gnomAD v4: 4-1003299-TC-T
• MyVariant Identifiers: chr4:g.997089del (hg19) ; chr4:g.1003301del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003303del , CM000666.2:g.1003303del	GRCh38
NC_000004.11:g.997091del , CM000666.1:g.997091del	GRCh37
NC_000004.10:g.987091del	NCBI36
NG_008103.1:g.21307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1525-42del	ENSP00000247933.4:n.1525-42del
ENST00000514224.2:c.1525-42del MANE Select	ENSP00000425081.2:n.1525-42del
ENST00000652070.1:n.1581-42del
ENST00000247933.8:c.1525-42del	ENSP00000247933.4:n.1525-42del
ENST00000502829.1:n.472del
ENST00000514224.1:c.1129-42del	ENSP00000425081.1:n.1129-42del
ENST00000514698.5:n.1632-42del
NM_000203.4:c.1525-42del	NP_000194.2:n.1525-42del
NR_110313.1:n.1613-42del
XM_006713882.2:c.1129-42del	XP_006713945.1:n.1129-42del
XM_011513459.1:c.1591-42del	XP_011511761.1:n.1591-42del
XM_011513460.1:c.1384-42del	XP_011511762.1:n.1384-42del
XM_011513461.1:c.1318-42del	XP_011511763.1:n.1318-42del
XM_011513462.1:c.1237-42del	XP_011511764.1:n.1237-42del
XM_011513463.1:c.1237-42del	XP_011511765.1:n.1237-42del
XR_924947.1:n.1739del
NM_000203.5:c.1525-42del MANE Select	NP_000194.2:n.1525-42del
NM_001363576.1:c.1129-42del	NP_001350505.1:n.1129-42del
XM_011513461.2:c.1318-42del	XP_011511763.1:n.1318-42del
XM_017008163.1:c.565-42del	XP_016863652.1:n.565-42del