Canonical Allele Identifier: CA2578014078

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003219_1003220insCG , CM000666.2:g.1003219_1003220insCG	GRCh38
NC_000004.11:g.997007_997008insCG , CM000666.1:g.997007_997008insCG	GRCh37
NC_000004.10:g.987007_987008insCG	NCBI36
NG_008103.1:g.21223_21224insCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1524+62_1524+63insCG	ENSP00000247933.4:n.1524+62_1524+63insCG
ENST00000514224.2:c.1524+62_1524+63insCG MANE Select	ENSP00000425081.2:n.1524+62_1524+63insCG
ENST00000652070.1:n.1580+62_1580+63insCG
ENST00000247933.8:c.1524+62_1524+63insCG	ENSP00000247933.4:n.1524+62_1524+63insCG
ENST00000502829.1:n.388_389insCG
ENST00000514224.1:c.1128+62_1128+63insCG	ENSP00000425081.1:n.1128+62_1128+63insCG
ENST00000514698.5:n.1631+62_1631+63insCG
NM_000203.4:c.1524+62_1524+63insCG	NP_000194.2:n.1524+62_1524+63insCG
NR_110313.1:n.1612+62_1612+63insCG
XM_006713882.2:c.1128+62_1128+63insCG	XP_006713945.1:n.1128+62_1128+63insCG
XM_011513459.1:c.1590+62_1590+63insCG	XP_011511761.1:n.1590+62_1590+63insCG
XM_011513460.1:c.1383+62_1383+63insCG	XP_011511762.1:n.1383+62_1383+63insCG
XM_011513461.1:c.1317+62_1317+63insCG	XP_011511763.1:n.1317+62_1317+63insCG
XM_011513462.1:c.1236+62_1236+63insCG	XP_011511764.1:n.1236+62_1236+63insCG
XM_011513463.1:c.1236+62_1236+63insCG	XP_011511765.1:n.1236+62_1236+63insCG
XR_924947.1:n.1655_1656insCG
NM_000203.5:c.1524+62_1524+63insCG MANE Select	NP_000194.2:n.1524+62_1524+63insCG
NM_001363576.1:c.1128+62_1128+63insCG	NP_001350505.1:n.1128+62_1128+63insCG
XM_011513461.2:c.1317+62_1317+63insCG	XP_011511763.1:n.1317+62_1317+63insCG
XM_017008163.1:c.564+62_564+63insCG	XP_016863652.1:n.564+62_564+63insCG