Canonical Allele Identifier: CA2669482651

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003184-GCCGGGCCGGGCCGGGGTCCCGGGGGGGTGGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003190_1003222del , CM000666.2:g.1003190_1003222del	GRCh38
NC_000004.11:g.996978_997010del , CM000666.1:g.996978_997010del	GRCh37
NC_000004.10:g.986978_987010del	NCBI36
NG_008103.1:g.21194_21226del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1524+33_1524+65del	ENSP00000247933.4:n.1524+33_1524+65del
ENST00000514224.2:c.1524+33_1524+65del MANE Select	ENSP00000425081.2:n.1524+33_1524+65del
ENST00000652070.1:n.1580+33_1580+65del
ENST00000247933.8:c.1524+33_1524+65del	ENSP00000247933.4:n.1524+33_1524+65del
ENST00000502829.1:n.359_391del
ENST00000514224.1:c.1128+33_1128+65del	ENSP00000425081.1:n.1128+33_1128+65del
ENST00000514698.5:n.1631+33_1631+65del
NM_000203.4:c.1524+33_1524+65del	NP_000194.2:n.1524+33_1524+65del
NR_110313.1:n.1612+33_1612+65del
XM_006713882.2:c.1128+33_1128+65del	XP_006713945.1:n.1128+33_1128+65del
XM_011513459.1:c.1590+33_1590+65del	XP_011511761.1:n.1590+33_1590+65del
XM_011513460.1:c.1383+33_1383+65del	XP_011511762.1:n.1383+33_1383+65del
XM_011513461.1:c.1317+33_1317+65del	XP_011511763.1:n.1317+33_1317+65del
XM_011513462.1:c.1236+33_1236+65del	XP_011511764.1:n.1236+33_1236+65del
XM_011513463.1:c.1236+33_1236+65del	XP_011511765.1:n.1236+33_1236+65del
XR_924947.1:n.1626_1658del
NM_000203.5:c.1524+33_1524+65del MANE Select	NP_000194.2:n.1524+33_1524+65del
NM_001363576.1:c.1128+33_1128+65del	NP_001350505.1:n.1128+33_1128+65del
XM_011513461.2:c.1317+33_1317+65del	XP_011511763.1:n.1317+33_1317+65del
XM_017008163.1:c.564+33_564+65del	XP_016863652.1:n.564+33_564+65del