Canonical Allele Identifier: CA2669482685

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003202-CCCGGGGGGGTGGGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003209_1003223del , CM000666.2:g.1003209_1003223del	GRCh38
NC_000004.11:g.996997_997011del , CM000666.1:g.996997_997011del	GRCh37
NC_000004.10:g.986997_987011del	NCBI36
NG_008103.1:g.21213_21227del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1524+52_1524+66del	ENSP00000247933.4:n.1524+52_1524+66del
ENST00000514224.2:c.1524+52_1524+66del MANE Select	ENSP00000425081.2:n.1524+52_1524+66del
ENST00000652070.1:n.1580+52_1580+66del
ENST00000247933.8:c.1524+52_1524+66del	ENSP00000247933.4:n.1524+52_1524+66del
ENST00000502829.1:n.378_392del
ENST00000514224.1:c.1128+52_1128+66del	ENSP00000425081.1:n.1128+52_1128+66del
ENST00000514698.5:n.1631+52_1631+66del
NM_000203.4:c.1524+52_1524+66del	NP_000194.2:n.1524+52_1524+66del
NR_110313.1:n.1612+52_1612+66del
XM_006713882.2:c.1128+52_1128+66del	XP_006713945.1:n.1128+52_1128+66del
XM_011513459.1:c.1590+52_1590+66del	XP_011511761.1:n.1590+52_1590+66del
XM_011513460.1:c.1383+52_1383+66del	XP_011511762.1:n.1383+52_1383+66del
XM_011513461.1:c.1317+52_1317+66del	XP_011511763.1:n.1317+52_1317+66del
XM_011513462.1:c.1236+52_1236+66del	XP_011511764.1:n.1236+52_1236+66del
XM_011513463.1:c.1236+52_1236+66del	XP_011511765.1:n.1236+52_1236+66del
XR_924947.1:n.1645_1659del
NM_000203.5:c.1524+52_1524+66del MANE Select	NP_000194.2:n.1524+52_1524+66del
NM_001363576.1:c.1128+52_1128+66del	NP_001350505.1:n.1128+52_1128+66del
XM_011513461.2:c.1317+52_1317+66del	XP_011511763.1:n.1317+52_1317+66del
XM_017008163.1:c.564+52_564+66del	XP_016863652.1:n.564+52_564+66del