Canonical Allele Identifier: CA355945969

Gene: IDUA SLC26A1

Linked Data

• ClinVar Variation Id: 855487
• ClinVar RCV Id: RCV001060767 ; RCV002287464 ; RCV003142002
• dbSNP Id: rs727503966
• gnomAD v2: 4-981596-G-GC
• gnomAD v4: 4-987808-G-GC
• MyVariant Identifiers: chr4:g.981596_981597insC (hg19) ; chr4:g.987808_987809insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987814dup , CM000666.2:g.987814dup	GRCh38
NC_000004.11:g.981602dup , CM000666.1:g.981602dup	GRCh37
NC_000004.10:g.971602dup	NCBI36
NG_008103.1:g.5818dup
NG_033042.1:g.10628dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.164dup (IDUA)	ENSP00000247933.4:p.Leu56AlafsTer7
ENST00000398516.3:c.*1024dup (SLC26A1) MANE Select	ENSP00000381528.2:n.*1024dup
ENST00000514224.2:c.164dup (IDUA) MANE Select	ENSP00000425081.2:p.Leu56AlafsTer7
ENST00000247933.8:c.164dup (IDUA)	ENSP00000247933.4:p.Leu56AlafsTer7
ENST00000361661.6:c.*1024dup (SLC26A1)	ENSP00000354721.2:n.*1024dup
ENST00000398520.6:c.576+3319dup (SLC26A1)	ENSP00000381532.2:n.576+3319dup
ENST00000502910.5:c.158+572dup (IDUA)	ENSP00000422952.1:n.158+572dup
ENST00000504568.5:c.162dup (IDUA)
ENST00000506561.5:n.173dup (IDUA)
ENST00000508168.5:n.177+572dup (IDUA)
ENST00000514698.5:n.199+572dup (IDUA)
ENST00000622731.4:c.576+3319dup (SLC26A1)	ENSP00000483506.1:n.576+3319dup
NM_000203.4:c.164dup (IDUA)	NP_000194.2:p.Leu56AlafsTer7
NM_022042.3:c.*1024dup (SLC26A1)	NP_071325.2:n.*1024dup
NM_134425.2:c.576+3319dup (SLC26A1)	NP_602297.1:n.576+3319dup
NM_213613.3:c.*1024dup (SLC26A1)	NP_998778.1:n.*1024dup
NR_110313.1:n.252dup (IDUA)
XM_006713856.2:c.*1024dup (SLC26A1)	XP_006713919.1:n.*1024dup
XM_011513459.1:c.158+572dup (IDUA)	XP_011511761.1:n.158+572dup
XM_011513460.1:c.158+572dup (IDUA)	XP_011511762.1:n.158+572dup
XR_924947.1:n.233dup (IDUA)
NM_000203.5:c.164dup (IDUA) MANE Select	NP_000194.2:p.Leu56AlafsTer7
XM_017008163.1:c.-1303dup (IDUA)	XP_016863652.1:n.-1303dup
NM_022042.4:c.*1024dup (SLC26A1) MANE Select	NP_071325.2:n.*1024dup
NM_134425.3:c.576+3319dup (SLC26A1)	NP_602297.1:n.576+3319dup
NM_213613.4:c.*1024dup (SLC26A1)	NP_998778.1:n.*1024dup
NM_134425.4:c.576+3319dup (SLC26A1)	NP_602297.1:n.576+3319dup