Canonical Allele Identifier: CA2669482689

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003205-GGGGGGGTGGGGTCCGGGGCGGGGGCTCCGAGGCGGTGTGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003209_1003250del , CM000666.2:g.1003209_1003250del	GRCh38
NC_000004.11:g.996997_997038del , CM000666.1:g.996997_997038del	GRCh37
NC_000004.10:g.986997_987038del	NCBI36
NG_008103.1:g.21213_21254del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1524+52_1524+93del	ENSP00000247933.4:n.1524+52_1524+93del
ENST00000514224.2:c.1524+52_1524+93del MANE Select	ENSP00000425081.2:n.1524+52_1524+93del
ENST00000652070.1:n.1580+52_1580+93del
ENST00000247933.8:c.1524+52_1524+93del	ENSP00000247933.4:n.1524+52_1524+93del
ENST00000502829.1:n.378_419del
ENST00000514224.1:c.1128+52_1128+93del	ENSP00000425081.1:n.1128+52_1128+93del
ENST00000514698.5:n.1631+52_1631+93del
NM_000203.4:c.1524+52_1524+93del	NP_000194.2:n.1524+52_1524+93del
NR_110313.1:n.1612+52_1612+93del
XM_006713882.2:c.1128+52_1128+93del	XP_006713945.1:n.1128+52_1128+93del
XM_011513459.1:c.1590+52_1590+93del	XP_011511761.1:n.1590+52_1590+93del
XM_011513460.1:c.1383+52_1383+93del	XP_011511762.1:n.1383+52_1383+93del
XM_011513461.1:c.1317+52_1317+93del	XP_011511763.1:n.1317+52_1317+93del
XM_011513462.1:c.1236+52_1236+93del	XP_011511764.1:n.1236+52_1236+93del
XM_011513463.1:c.1236+52_1236+93del	XP_011511765.1:n.1236+52_1236+93del
XR_924947.1:n.1645_1686del
NM_000203.5:c.1524+52_1524+93del MANE Select	NP_000194.2:n.1524+52_1524+93del
NM_001363576.1:c.1128+52_1128+93del	NP_001350505.1:n.1128+52_1128+93del
XM_011513461.2:c.1317+52_1317+93del	XP_011511763.1:n.1317+52_1317+93del
XM_017008163.1:c.564+52_564+93del	XP_016863652.1:n.564+52_564+93del