Canonical Allele Identifier: CA2669482653

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003186-CGGGCCGGGCCGGGGTCCCGGGGGGGTGGGGTCCGGGGCGGGGGCTCCGAGGCGGTGTGGGTGGGAGGTGGAGCGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003195_1003270del , CM000666.2:g.1003195_1003270del	GRCh38
NC_000004.11:g.996983_997058del , CM000666.1:g.996983_997058del	GRCh37
NC_000004.10:g.986983_987058del	NCBI36
NG_008103.1:g.21199_21274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+38_1525-75del	ENSP00000247933.4:n.1524+38_1525-75del
ENST00000514224.2:c.1524+38_1525-75del MANE Select	ENSP00000425081.2:n.1524+38_1525-75del
ENST00000652070.1:n.1580+38_1581-75del
ENST00000247933.8:c.1524+38_1525-75del	ENSP00000247933.4:n.1524+38_1525-75del
ENST00000502829.1:n.364_439del
ENST00000514224.1:c.1128+38_1129-75del	ENSP00000425081.1:n.1128+38_1129-75del
ENST00000514698.5:n.1631+38_1632-75del
NM_000203.4:c.1524+38_1525-75del	NP_000194.2:n.1524+38_1525-75del
NR_110313.1:n.1612+38_1613-75del
XM_006713882.2:c.1128+38_1129-75del	XP_006713945.1:n.1128+38_1129-75del
XM_011513459.1:c.1590+38_1591-75del	XP_011511761.1:n.1590+38_1591-75del
XM_011513460.1:c.1383+38_1384-75del	XP_011511762.1:n.1383+38_1384-75del
XM_011513461.1:c.1317+38_1318-75del	XP_011511763.1:n.1317+38_1318-75del
XM_011513462.1:c.1236+38_1237-75del	XP_011511764.1:n.1236+38_1237-75del
XM_011513463.1:c.1236+38_1237-75del	XP_011511765.1:n.1236+38_1237-75del
XR_924947.1:n.1631_1706del
NM_000203.5:c.1524+38_1525-75del MANE Select	NP_000194.2:n.1524+38_1525-75del
NM_001363576.1:c.1128+38_1129-75del	NP_001350505.1:n.1128+38_1129-75del
XM_011513461.2:c.1317+38_1318-75del	XP_011511763.1:n.1317+38_1318-75del
XM_017008163.1:c.564+38_565-75del	XP_016863652.1:n.564+38_565-75del