Canonical Allele Identifier: CA2669482927

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003437-C-CGT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003443_1003444dup , CM000666.2:g.1003443_1003444dup	GRCh38
NC_000004.11:g.997231_997232dup , CM000666.1:g.997231_997232dup	GRCh37
NC_000004.10:g.987231_987232dup	NCBI36
NG_008103.1:g.21447_21448dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1623_1624dup	ENSP00000247933.4:p.Ala542ValfsTer19
ENST00000514224.2:c.1623_1624dup MANE Select	ENSP00000425081.2:p.Ala542ValfsTer19
ENST00000652070.1:n.1679_1680dup
ENST00000247933.8:c.1623_1624dup	ENSP00000247933.4:p.Ala542ValfsTer19
ENST00000514224.1:c.1227_1228dup	ENSP00000425081.1:p.Ala410ValfsTer19
ENST00000514417.1:n.15_16dup
ENST00000514698.5:n.1730_1731dup
NM_000203.4:c.1623_1624dup	NP_000194.2:p.Ala542ValfsTer19
NR_110313.1:n.1711_1712dup
XM_006713882.2:c.1227_1228dup	XP_006713945.1:p.Ala410ValfsTer19
XM_011513459.1:c.1689_1690dup	XP_011511761.1:p.Ala564ValfsTer19
XM_011513460.1:c.1482_1483dup	XP_011511762.1:p.Ala495ValfsTer19
XM_011513461.1:c.1416_1417dup	XP_011511763.1:p.Ala473ValfsTer19
XM_011513462.1:c.1335_1336dup	XP_011511764.1:p.Ala446ValfsTer19
XM_011513463.1:c.1335_1336dup	XP_011511765.1:p.Ala446ValfsTer19
XR_924947.1:n.1879_1880dup
NM_000203.5:c.1623_1624dup MANE Select	NP_000194.2:p.Ala542ValfsTer19
NM_001363576.1:c.1227_1228dup	NP_001350505.1:p.Ala410ValfsTer19
XM_011513461.2:c.1416_1417dup	XP_011511763.1:p.Ala473ValfsTer19
XM_017008163.1:c.663_664dup	XP_016863652.1:p.Ala222ValfsTer19