Canonical Allele Identifier: CA91146001

Gene: IDUA SLC26A1

Linked Data

• ClinVar Variation Id: 92633
• ClinVar RCV Id: RCV000596533 ; RCV001854377
• dbSNP Id: rs398123255
• gnomAD v2: 4-981573-GAGCCGCCCCTTTGTTGTCCCC-G
• gnomAD v3: 4-987785-GAGCCGCCCCTTTGTTGTCCCC-G
• gnomAD v4: 4-987785-GAGCCGCCCCTTTGTTGTCCCC-G
• MyVariant Identifiers: chr4:g.981578_981598del (hg19) ; chr4:g.981574_981594del (hg19) ; chr4:g.981578_981598delGCCCCTTTGTTGTCCCCAGCC (hg19) ; chr4:g.987790_987810del (hg38) ; chr4:g.987786_987806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987790_987810del , CM000666.2:g.987790_987810del	GRCh38
NC_000004.11:g.981578_981598del , CM000666.1:g.981578_981598del	GRCh37
NC_000004.10:g.971578_971598del	NCBI36
NG_008103.1:g.5794_5814del
NG_033042.1:g.10631_10651del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.159-19_160del (IDUA)
ENST00000398516.3:c.*1027_*1047del (SLC26A1) MANE Select	ENSP00000381528.2:n.*1027_*1047del
ENST00000514224.2:c.159-19_160del (IDUA)
ENST00000247933.8:c.159-19_160del (IDUA)
ENST00000361661.6:c.*1027_*1047del (SLC26A1)	ENSP00000354721.2:n.*1027_*1047del
ENST00000398520.6:c.576+3322_576+3342del (SLC26A1)	ENSP00000381532.2:n.576+3322_576+3342del
ENST00000502910.5:c.158+548_158+568del (IDUA)	ENSP00000422952.1:n.158+548_158+568del
ENST00000504568.5:c.157-19_158del (IDUA)
ENST00000506561.5:n.168-19_169del (IDUA)
ENST00000508168.5:n.177+548_177+568del (IDUA)
ENST00000514698.5:n.199+548_199+568del (IDUA)
ENST00000622731.4:c.576+3322_576+3342del (SLC26A1)	ENSP00000483506.1:n.576+3322_576+3342del
NM_000203.4:c.159-19_160del (IDUA)
NM_022042.3:c.*1027_*1047del (SLC26A1)	NP_071325.2:n.*1027_*1047del
NM_134425.2:c.576+3322_576+3342del (SLC26A1)	NP_602297.1:n.576+3322_576+3342del
NM_213613.3:c.*1027_*1047del (SLC26A1)	NP_998778.1:n.*1027_*1047del
NR_110313.1:n.247-19_248del (IDUA)
XM_006713856.2:c.*1027_*1047del (SLC26A1)	XP_006713919.1:n.*1027_*1047del
XM_011513459.1:c.158+548_158+568del (IDUA)	XP_011511761.1:n.158+548_158+568del
XM_011513460.1:c.158+548_158+568del (IDUA)	XP_011511762.1:n.158+548_158+568del
XR_924947.1:n.228-19_229del (IDUA)
NM_000203.5:c.159-19_160del (IDUA)
XM_017008163.1:c.-1308-19_-1307del (IDUA)
NM_022042.4:c.*1027_*1047del (SLC26A1) MANE Select	NP_071325.2:n.*1027_*1047del
NM_134425.3:c.576+3322_576+3342del (SLC26A1)	NP_602297.1:n.576+3322_576+3342del
NM_213613.4:c.*1027_*1047del (SLC26A1)	NP_998778.1:n.*1027_*1047del
NM_134425.4:c.576+3322_576+3342del (SLC26A1)	NP_602297.1:n.576+3322_576+3342del