Canonical Allele Identifier: CA913108040

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996574_996601del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002786_1002813del , CM000666.2:g.1002786_1002813del	GRCh38
NC_000004.11:g.996574_996601del , CM000666.1:g.996574_996601del	GRCh37
NC_000004.10:g.986574_986601del	NCBI36
NG_008103.1:g.20790_20817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1244_1271del	ENSP00000247933.4:p.Asn415ThrfsTer16
ENST00000514224.2:c.1244_1271del MANE Select	ENSP00000425081.2:p.Asn415ThrfsTer16
ENST00000652070.1:n.1300_1327del
ENST00000247933.8:c.1244_1271del	ENSP00000247933.4:p.Asn415ThrfsTer16
ENST00000502829.1:n.46_73del
ENST00000514224.1:c.848_875del	ENSP00000425081.1:p.Asn283ThrfsTer16
ENST00000514698.5:n.1351_1378del
NM_000203.4:c.1244_1271del	NP_000194.2:p.Asn415ThrfsTer16
NR_110313.1:n.1332_1359del
XM_006713882.2:c.848_875del	XP_006713945.1:p.Asn283ThrfsTer16
XM_011513459.1:c.1310_1337del	XP_011511761.1:p.Asn437ThrfsTer16
XM_011513460.1:c.1103_1130del	XP_011511762.1:p.Asn368ThrfsTer16
XM_011513461.1:c.1037_1064del	XP_011511763.1:p.Asn346ThrfsTer16
XM_011513462.1:c.956_983del	XP_011511764.1:p.Asn319ThrfsTer16
XM_011513463.1:c.956_983del	XP_011511765.1:p.Asn319ThrfsTer16
XR_924947.1:n.1313_1340del
NM_000203.5:c.1244_1271del MANE Select	NP_000194.2:p.Asn415ThrfsTer16
NM_001363576.1:c.848_875del	NP_001350505.1:p.Asn283ThrfsTer16
XM_011513461.2:c.1037_1064del	XP_011511763.1:p.Asn346ThrfsTer16
XM_017008163.1:c.284_311del	XP_016863652.1:p.Asn95ThrfsTer16