Canonical Allele Identifier: CA2669482696

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003210-GGTGGGGTCCGGGGCGGGGGCTCCGAGGCGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003216_1003246del , CM000666.2:g.1003216_1003246del	GRCh38
NC_000004.11:g.997004_997034del , CM000666.1:g.997004_997034del	GRCh37
NC_000004.10:g.987004_987034del	NCBI36
NG_008103.1:g.21220_21250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+59_1524+89del	ENSP00000247933.4:n.1524+59_1524+89del
ENST00000514224.2:c.1524+59_1524+89del MANE Select	ENSP00000425081.2:n.1524+59_1524+89del
ENST00000652070.1:n.1580+59_1580+89del
ENST00000247933.8:c.1524+59_1524+89del	ENSP00000247933.4:n.1524+59_1524+89del
ENST00000502829.1:n.385_415del
ENST00000514224.1:c.1128+59_1128+89del	ENSP00000425081.1:n.1128+59_1128+89del
ENST00000514698.5:n.1631+59_1631+89del
NM_000203.4:c.1524+59_1524+89del	NP_000194.2:n.1524+59_1524+89del
NR_110313.1:n.1612+59_1612+89del
XM_006713882.2:c.1128+59_1128+89del	XP_006713945.1:n.1128+59_1128+89del
XM_011513459.1:c.1590+59_1590+89del	XP_011511761.1:n.1590+59_1590+89del
XM_011513460.1:c.1383+59_1383+89del	XP_011511762.1:n.1383+59_1383+89del
XM_011513461.1:c.1317+59_1317+89del	XP_011511763.1:n.1317+59_1317+89del
XM_011513462.1:c.1236+59_1236+89del	XP_011511764.1:n.1236+59_1236+89del
XM_011513463.1:c.1236+59_1236+89del	XP_011511765.1:n.1236+59_1236+89del
XR_924947.1:n.1652_1682del
NM_000203.5:c.1524+59_1524+89del MANE Select	NP_000194.2:n.1524+59_1524+89del
NM_001363576.1:c.1128+59_1128+89del	NP_001350505.1:n.1128+59_1128+89del
XM_011513461.2:c.1317+59_1317+89del	XP_011511763.1:n.1317+59_1317+89del
XM_017008163.1:c.564+59_564+89del	XP_016863652.1:n.564+59_564+89del