Canonical Allele Identifier: CA2669482925

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003410-G-GCGGCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003413_1003419dup , CM000666.2:g.1003413_1003419dup	GRCh38
NC_000004.11:g.997201_997207dup , CM000666.1:g.997201_997207dup	GRCh37
NC_000004.10:g.987201_987207dup	NCBI36
NG_008103.1:g.21417_21423dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1593_1599dup	ENSP00000247933.4:p.Ser534AlafsTer?
ENST00000514224.2:c.1593_1599dup MANE Select	ENSP00000425081.2:p.Ser534AlafsTer?
ENST00000652070.1:n.1649_1655dup
ENST00000247933.8:c.1593_1599dup	ENSP00000247933.4:p.Ser534AlafsTer?
ENST00000514224.1:c.1197_1203dup	ENSP00000425081.1:p.Ser402AlafsTer?
ENST00000514698.5:n.1700_1706dup
NM_000203.4:c.1593_1599dup	NP_000194.2:p.Ser534AlafsTer?
NR_110313.1:n.1681_1687dup
XM_006713882.2:c.1197_1203dup	XP_006713945.1:p.Ser402AlafsTer?
XM_011513459.1:c.1659_1665dup	XP_011511761.1:p.Ser556AlafsTer?
XM_011513460.1:c.1452_1458dup	XP_011511762.1:p.Ser487AlafsTer?
XM_011513461.1:c.1386_1392dup	XP_011511763.1:p.Ser465AlafsTer?
XM_011513462.1:c.1305_1311dup	XP_011511764.1:p.Ser438AlafsTer?
XM_011513463.1:c.1305_1311dup	XP_011511765.1:p.Ser438AlafsTer?
XR_924947.1:n.1849_1855dup
NM_000203.5:c.1593_1599dup MANE Select	NP_000194.2:p.Ser534AlafsTer?
NM_001363576.1:c.1197_1203dup	NP_001350505.1:p.Ser402AlafsTer?
XM_011513461.2:c.1386_1392dup	XP_011511763.1:p.Ser465AlafsTer?
XM_017008163.1:c.633_639dup	XP_016863652.1:p.Ser214AlafsTer?