Canonical Allele Identifier: CA2669482711

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003219-CGGGGCGGGGGCTCCGAGGCGGTGTGGGTGGGAGGTGGAGCGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003223_1003265del , CM000666.2:g.1003223_1003265del	GRCh38
NC_000004.11:g.997011_997053del , CM000666.1:g.997011_997053del	GRCh37
NC_000004.10:g.987011_987053del	NCBI36
NG_008103.1:g.21227_21269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+66_1525-80del	ENSP00000247933.4:n.1524+66_1525-80del
ENST00000514224.2:c.1524+66_1525-80del MANE Select	ENSP00000425081.2:n.1524+66_1525-80del
ENST00000652070.1:n.1580+66_1581-80del
ENST00000247933.8:c.1524+66_1525-80del	ENSP00000247933.4:n.1524+66_1525-80del
ENST00000502829.1:n.392_434del
ENST00000514224.1:c.1128+66_1129-80del	ENSP00000425081.1:n.1128+66_1129-80del
ENST00000514698.5:n.1631+66_1632-80del
NM_000203.4:c.1524+66_1525-80del	NP_000194.2:n.1524+66_1525-80del
NR_110313.1:n.1612+66_1613-80del
XM_006713882.2:c.1128+66_1129-80del	XP_006713945.1:n.1128+66_1129-80del
XM_011513459.1:c.1590+66_1591-80del	XP_011511761.1:n.1590+66_1591-80del
XM_011513460.1:c.1383+66_1384-80del	XP_011511762.1:n.1383+66_1384-80del
XM_011513461.1:c.1317+66_1318-80del	XP_011511763.1:n.1317+66_1318-80del
XM_011513462.1:c.1236+66_1237-80del	XP_011511764.1:n.1236+66_1237-80del
XM_011513463.1:c.1236+66_1237-80del	XP_011511765.1:n.1236+66_1237-80del
XR_924947.1:n.1659_1701del
NM_000203.5:c.1524+66_1525-80del MANE Select	NP_000194.2:n.1524+66_1525-80del
NM_001363576.1:c.1128+66_1129-80del	NP_001350505.1:n.1128+66_1129-80del
XM_011513461.2:c.1317+66_1318-80del	XP_011511763.1:n.1317+66_1318-80del
XM_017008163.1:c.564+66_565-80del	XP_016863652.1:n.564+66_565-80del