Canonical Allele Identifier: CA1433071509

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003204_1003205delinsCG , CM000666.2:g.1003204_1003205delinsCG	GRCh38
NC_000004.11:g.996992_996993delinsCG , CM000666.1:g.996992_996993delinsCG	GRCh37
NC_000004.10:g.986992_986993delinsCG	NCBI36
NG_008103.1:g.21208_21209delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+47_1524+48delinsCG	ENSP00000247933.4:n.1524+47_1524+48delinsCG
ENST00000514224.2:c.1524+47_1524+48delinsCG MANE Select	ENSP00000425081.2:n.1524+47_1524+48delinsCG
ENST00000652070.1:n.1580+47_1580+48delinsCG
ENST00000247933.8:c.1524+47_1524+48delinsCG	ENSP00000247933.4:n.1524+47_1524+48delinsCG
ENST00000502829.1:n.373_374delinsCG
ENST00000514224.1:c.1128+47_1128+48delinsCG	ENSP00000425081.1:n.1128+47_1128+48delinsCG
ENST00000514698.5:n.1631+47_1631+48delinsCG
NM_000203.4:c.1524+47_1524+48delinsCG	NP_000194.2:n.1524+47_1524+48delinsCG
NR_110313.1:n.1612+47_1612+48delinsCG
XM_006713882.2:c.1128+47_1128+48delinsCG	XP_006713945.1:n.1128+47_1128+48delinsCG
XM_011513459.1:c.1590+47_1590+48delinsCG	XP_011511761.1:n.1590+47_1590+48delinsCG
XM_011513460.1:c.1383+47_1383+48delinsCG	XP_011511762.1:n.1383+47_1383+48delinsCG
XM_011513461.1:c.1317+47_1317+48delinsCG	XP_011511763.1:n.1317+47_1317+48delinsCG
XM_011513462.1:c.1236+47_1236+48delinsCG	XP_011511764.1:n.1236+47_1236+48delinsCG
XM_011513463.1:c.1236+47_1236+48delinsCG	XP_011511765.1:n.1236+47_1236+48delinsCG
XR_924947.1:n.1640_1641delinsCG
NM_000203.5:c.1524+47_1524+48delinsCG MANE Select	NP_000194.2:n.1524+47_1524+48delinsCG
NM_001363576.1:c.1128+47_1128+48delinsCG	NP_001350505.1:n.1128+47_1128+48delinsCG
XM_011513461.2:c.1317+47_1317+48delinsCG	XP_011511763.1:n.1317+47_1317+48delinsCG
XM_017008163.1:c.564+47_564+48delinsCG	XP_016863652.1:n.564+47_564+48delinsCG