Canonical Allele Identifier: CA784303915

Gene: IDUA

Linked Data

• dbSNP Id: rs1383340178
• gnomAD v3: 4-1001971-CCCGCCCGCAGGGTGCG-C
• gnomAD v4: 4-1001971-CCCGCCCGCAGGGTGCG-C
• MyVariant Identifiers: chr4:g.995760_995775del (hg19) ; chr4:g.1001972_1001987del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001973_1001988del , CM000666.2:g.1001973_1001988del	GRCh38
NC_000004.11:g.995761_995776del , CM000666.1:g.995761_995776del	GRCh37
NC_000004.10:g.985761_985776del	NCBI36
NG_008103.1:g.19977_19992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-9_799del
ENST00000514224.2:c.793-9_799del
ENST00000652070.1:n.849-9_855del
ENST00000247933.8:c.793-9_799del
ENST00000502910.5:c.652-9_658del
ENST00000514192.5:c.610-9_616del
ENST00000514224.1:c.397-9_403del
ENST00000514698.5:n.784_799del
NM_000203.4:c.793-9_799del
NR_110313.1:n.881-9_887del
XM_006713882.2:c.397-9_403del
XM_011513459.1:c.743_758del	XP_011511761.1:p.Pro248ArgfsTer?
XM_011513460.1:c.652-9_658del
XM_011513461.1:c.586-9_592del
XM_011513462.1:c.505-9_511del
XM_011513463.1:c.505-9_511del
XR_924947.1:n.862-9_868del
NM_000203.5:c.793-9_799del
NM_001363576.1:c.397-9_403del
XM_011513461.2:c.586-9_592del
XM_017008163.1:c.-168-9_-162del