Canonical Allele Identifier: CA913108046

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997198_997199del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003411_1003412del , CM000666.2:g.1003411_1003412del	GRCh38
NC_000004.11:g.997199_997200del , CM000666.1:g.997199_997200del	GRCh37
NC_000004.10:g.987199_987200del	NCBI36
NG_008103.1:g.21415_21416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1591_1592del	ENSP00000247933.4:p.Arg531AlafsTer?
ENST00000514224.2:c.1591_1592del MANE Select	ENSP00000425081.2:p.Arg531AlafsTer?
ENST00000652070.1:n.1647_1648del
ENST00000247933.8:c.1591_1592del	ENSP00000247933.4:p.Arg531AlafsTer?
ENST00000514224.1:c.1195_1196del	ENSP00000425081.1:p.Arg399AlafsTer?
ENST00000514698.5:n.1698_1699del
NM_000203.4:c.1591_1592del	NP_000194.2:p.Arg531AlafsTer?
NR_110313.1:n.1679_1680del
XM_006713882.2:c.1195_1196del	XP_006713945.1:p.Arg399AlafsTer?
XM_011513459.1:c.1657_1658del	XP_011511761.1:p.Arg553AlafsTer?
XM_011513460.1:c.1450_1451del	XP_011511762.1:p.Arg484AlafsTer?
XM_011513461.1:c.1384_1385del	XP_011511763.1:p.Arg462AlafsTer?
XM_011513462.1:c.1303_1304del	XP_011511764.1:p.Arg435AlafsTer?
XM_011513463.1:c.1303_1304del	XP_011511765.1:p.Arg435AlafsTer?
XR_924947.1:n.1847_1848del
NM_000203.5:c.1591_1592del MANE Select	NP_000194.2:p.Arg531AlafsTer?
NM_001363576.1:c.1195_1196del	NP_001350505.1:p.Arg399AlafsTer?
XM_011513461.2:c.1384_1385del	XP_011511763.1:p.Arg462AlafsTer?
XM_017008163.1:c.631_632del	XP_016863652.1:p.Arg211AlafsTer?