Canonical Allele Identifier: CA91168212

Gene: IDUA

Linked Data

• dbSNP Id: rs931375013
• gnomAD v4: 4-1001926-CCGCTGTGCCCCGGGCCG-C
• MyVariant Identifiers: chr4:g.995715_995731del (hg19) ; chr4:g.1001927_1001943del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001932_1001948del , CM000666.2:g.1001932_1001948del	GRCh38
NC_000004.11:g.995720_995736del , CM000666.1:g.995720_995736del	GRCh37
NC_000004.10:g.985720_985736del	NCBI36
NG_008103.1:g.19936_19952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-50_793-34del	ENSP00000247933.4:n.793-50_793-34del
ENST00000514224.2:c.793-50_793-34del MANE Select	ENSP00000425081.2:n.793-50_793-34del
ENST00000652070.1:n.849-50_849-34del
ENST00000247933.8:c.793-50_793-34del	ENSP00000247933.4:n.793-50_793-34del
ENST00000502910.5:c.652-50_652-34del	ENSP00000422952.1:n.652-50_652-34del
ENST00000514192.5:c.610-50_610-34del	ENSP00000423685.1:n.610-50_610-34del
ENST00000514224.1:c.397-50_397-34del	ENSP00000425081.1:n.397-50_397-34del
ENST00000514698.5:n.743_759del
NM_000203.4:c.793-50_793-34del	NP_000194.2:n.793-50_793-34del
NR_110313.1:n.881-50_881-34del
XM_006713882.2:c.397-50_397-34del	XP_006713945.1:n.397-50_397-34del
XM_011513459.1:c.702_718del	XP_011511761.1:p.Cys234Ter
XM_011513460.1:c.652-50_652-34del	XP_011511762.1:n.652-50_652-34del
XM_011513461.1:c.586-50_586-34del	XP_011511763.1:n.586-50_586-34del
XM_011513462.1:c.505-50_505-34del	XP_011511764.1:n.505-50_505-34del
XM_011513463.1:c.505-50_505-34del	XP_011511765.1:n.505-50_505-34del
XR_924947.1:n.862-50_862-34del
NM_000203.5:c.793-50_793-34del MANE Select	NP_000194.2:n.793-50_793-34del
NM_001363576.1:c.397-50_397-34del	NP_001350505.1:n.397-50_397-34del
XM_011513461.2:c.586-50_586-34del	XP_011511763.1:n.586-50_586-34del
XM_017008163.1:c.-168-50_-168-34del	XP_016863652.1:n.-168-50_-168-34del