Canonical Allele Identifier: CA10576338

Gene: IDUA

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001701_1001704dup , CM000666.2:g.1001701_1001704dup	GRCh38
NC_000004.11:g.995489_995492dup , CM000666.1:g.995489_995492dup	GRCh37
NC_000004.10:g.985489_985492dup	NCBI36
NG_008103.1:g.19705_19708dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.612_615dup	ENSP00000247933.4:p.Ser206LeufsTer?
ENST00000514224.2:c.612_615dup MANE Select	ENSP00000425081.2:p.Ser206LeufsTer?
ENST00000652070.1:n.668_671dup
ENST00000247933.8:c.612_615dup	ENSP00000247933.4:p.Ser206LeufsTer?
ENST00000502910.5:c.471_474dup	ENSP00000422952.1:p.Ser159LeufsTer?
ENST00000504568.5:c.572_575dup
ENST00000509948.5:c.405_408dup	ENSP00000424227.1:p.Ser137LeufsTer?
ENST00000514192.5:c.429_432dup	ENSP00000423685.1:p.Ser145LeufsTer?
ENST00000514224.1:c.216_219dup	ENSP00000425081.1:p.Ser74LeufsTer?
ENST00000514698.5:n.512_515dup
NM_000203.4:c.612_615dup	NP_000194.2:p.Ser206LeufsTer?
NR_110313.1:n.700_703dup
XM_006713882.2:c.216_219dup	XP_006713945.1:p.Ser74LeufsTer?
XM_011513459.1:c.471_474dup	XP_011511761.1:p.Ser159LeufsTer?
XM_011513460.1:c.471_474dup	XP_011511762.1:p.Ser159LeufsTer?
XM_011513461.1:c.405_408dup	XP_011511763.1:p.Ser137LeufsTer?
XM_011513462.1:c.324_327dup	XP_011511764.1:p.Ser110LeufsTer?
XM_011513463.1:c.324_327dup	XP_011511765.1:p.Ser110LeufsTer?
XR_924947.1:n.681_684dup
NM_000203.5:c.612_615dup MANE Select	NP_000194.2:p.Ser206LeufsTer?
NM_001363576.1:c.216_219dup	NP_001350505.1:p.Ser74LeufsTer?
XM_011513461.2:c.405_408dup	XP_011511763.1:p.Ser137LeufsTer?
XM_017008163.1:c.-349_-346dup	XP_016863652.1:n.-349_-346dup