Canonical Allele Identifier: CA2669482707

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003217-TCCGGGGCGGGGGCTCCGAGGCGGTGTGGGTGGGAGGTGGAGCGGTGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003224_1003271del , CM000666.2:g.1003224_1003271del	GRCh38
NC_000004.11:g.997012_997059del , CM000666.1:g.997012_997059del	GRCh37
NC_000004.10:g.987012_987059del	NCBI36
NG_008103.1:g.21228_21275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+67_1525-74del	ENSP00000247933.4:n.1524+67_1525-74del
ENST00000514224.2:c.1524+67_1525-74del MANE Select	ENSP00000425081.2:n.1524+67_1525-74del
ENST00000652070.1:n.1580+67_1581-74del
ENST00000247933.8:c.1524+67_1525-74del	ENSP00000247933.4:n.1524+67_1525-74del
ENST00000502829.1:n.393_440del
ENST00000514224.1:c.1128+67_1129-74del	ENSP00000425081.1:n.1128+67_1129-74del
ENST00000514698.5:n.1631+67_1632-74del
NM_000203.4:c.1524+67_1525-74del	NP_000194.2:n.1524+67_1525-74del
NR_110313.1:n.1612+67_1613-74del
XM_006713882.2:c.1128+67_1129-74del	XP_006713945.1:n.1128+67_1129-74del
XM_011513459.1:c.1590+67_1591-74del	XP_011511761.1:n.1590+67_1591-74del
XM_011513460.1:c.1383+67_1384-74del	XP_011511762.1:n.1383+67_1384-74del
XM_011513461.1:c.1317+67_1318-74del	XP_011511763.1:n.1317+67_1318-74del
XM_011513462.1:c.1236+67_1237-74del	XP_011511764.1:n.1236+67_1237-74del
XM_011513463.1:c.1236+67_1237-74del	XP_011511765.1:n.1236+67_1237-74del
XR_924947.1:n.1660_1707del
NM_000203.5:c.1524+67_1525-74del MANE Select	NP_000194.2:n.1524+67_1525-74del
NM_001363576.1:c.1128+67_1129-74del	NP_001350505.1:n.1128+67_1129-74del
XM_011513461.2:c.1317+67_1318-74del	XP_011511763.1:n.1317+67_1318-74del
XM_017008163.1:c.564+67_565-74del	XP_016863652.1:n.564+67_565-74del