Canonical Allele Identifier: CA913108039

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996153_996174del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002366_1002387del , CM000666.2:g.1002366_1002387del	GRCh38
NC_000004.11:g.996154_996175del , CM000666.1:g.996154_996175del	GRCh37
NC_000004.10:g.986154_986175del	NCBI36
NG_008103.1:g.20370_20391del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1070_1091del	ENSP00000247933.4:p.Pro357ArgfsTer?
ENST00000514224.2:c.1070_1091del MANE Select	ENSP00000425081.2:p.Pro357ArgfsTer?
ENST00000652070.1:n.1126_1147del
ENST00000247933.8:c.1070_1091del	ENSP00000247933.4:p.Pro357ArgfsTer?
ENST00000514224.1:c.674_695del	ENSP00000425081.1:p.Pro225ArgfsTer?
ENST00000514698.5:n.1177_1198del
NM_000203.4:c.1070_1091del	NP_000194.2:p.Pro357ArgfsTer?
NR_110313.1:n.1158_1179del
XM_006713882.2:c.674_695del	XP_006713945.1:p.Pro225ArgfsTer?
XM_011513459.1:c.1136_1157del	XP_011511761.1:p.Pro379ArgfsTer?
XM_011513460.1:c.929_950del	XP_011511762.1:p.Pro310ArgfsTer?
XM_011513461.1:c.863_884del	XP_011511763.1:p.Pro288ArgfsTer?
XM_011513462.1:c.782_803del	XP_011511764.1:p.Pro261ArgfsTer?
XM_011513463.1:c.782_803del	XP_011511765.1:p.Pro261ArgfsTer?
XR_924947.1:n.1139_1160del
NM_000203.5:c.1070_1091del MANE Select	NP_000194.2:p.Pro357ArgfsTer?
NM_001363576.1:c.674_695del	NP_001350505.1:p.Pro225ArgfsTer?
XM_011513461.2:c.863_884del	XP_011511763.1:p.Pro288ArgfsTer?
XM_017008163.1:c.110_131del	XP_016863652.1:p.Pro37ArgfsTer?