Canonical Allele Identifier: CA2578014080

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003224del , CM000666.2:g.1003224del	GRCh38
NC_000004.11:g.997012del , CM000666.1:g.997012del	GRCh37
NC_000004.10:g.987012del	NCBI36
NG_008103.1:g.21228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+67del	ENSP00000247933.4:n.1524+67del
ENST00000514224.2:c.1524+67del MANE Select	ENSP00000425081.2:n.1524+67del
ENST00000652070.1:n.1580+67del
ENST00000247933.8:c.1524+67del	ENSP00000247933.4:n.1524+67del
ENST00000502829.1:n.393del
ENST00000514224.1:c.1128+67del	ENSP00000425081.1:n.1128+67del
ENST00000514698.5:n.1631+67del
NM_000203.4:c.1524+67del	NP_000194.2:n.1524+67del
NR_110313.1:n.1612+67del
XM_006713882.2:c.1128+67del	XP_006713945.1:n.1128+67del
XM_011513459.1:c.1590+67del	XP_011511761.1:n.1590+67del
XM_011513460.1:c.1383+67del	XP_011511762.1:n.1383+67del
XM_011513461.1:c.1317+67del	XP_011511763.1:n.1317+67del
XM_011513462.1:c.1236+67del	XP_011511764.1:n.1236+67del
XM_011513463.1:c.1236+67del	XP_011511765.1:n.1236+67del
XR_924947.1:n.1660del
NM_000203.5:c.1524+67del MANE Select	NP_000194.2:n.1524+67del
NM_001363576.1:c.1128+67del	NP_001350505.1:n.1128+67del
XM_011513461.2:c.1317+67del	XP_011511763.1:n.1317+67del
XM_017008163.1:c.564+67del	XP_016863652.1:n.564+67del