Canonical Allele Identifier: CA800603993

Gene: IDUA SLC26A1

Linked Data

• dbSNP Id: rs1158415241
• gnomAD v3: 4-987414-C-CCGGGG
• gnomAD v4: 4-987414-C-CCGGGG
• MyVariant Identifiers: chr4:g.981202_981203insCGGGG (hg19) ; chr4:g.987414_987415insCGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987417_987421dup , CM000666.2:g.987417_987421dup	GRCh38
NC_000004.11:g.981205_981209dup , CM000666.1:g.981205_981209dup	GRCh37
NC_000004.10:g.971205_971209dup	NCBI36
NG_008103.1:g.5421_5425dup
NG_033042.1:g.11018_11022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.158+175_158+179dup (IDUA)	ENSP00000247933.4:n.158+175_158+179dup
ENST00000514224.2:c.158+175_158+179dup (IDUA) MANE Select	ENSP00000425081.2:n.158+175_158+179dup
ENST00000247933.8:c.158+175_158+179dup (IDUA)	ENSP00000247933.4:n.158+175_158+179dup
ENST00000398520.6:c.576+3709_576+3713dup (SLC26A1)	ENSP00000381532.2:n.576+3709_576+3713dup
ENST00000502910.5:c.158+175_158+179dup (IDUA)	ENSP00000422952.1:n.158+175_158+179dup
ENST00000504568.5:c.156+175_156+179dup (IDUA)
ENST00000506561.5:n.167+175_167+179dup (IDUA)
ENST00000508168.5:n.177+175_177+179dup (IDUA)
ENST00000514698.5:n.199+175_199+179dup (IDUA)
ENST00000622731.4:c.576+3709_576+3713dup (SLC26A1)	ENSP00000483506.1:n.576+3709_576+3713dup
NM_000203.4:c.158+175_158+179dup (IDUA)	NP_000194.2:n.158+175_158+179dup
NM_134425.2:c.576+3709_576+3713dup (SLC26A1)	NP_602297.1:n.576+3709_576+3713dup
NR_110313.1:n.246+175_246+179dup (IDUA)
XM_011513459.1:c.158+175_158+179dup (IDUA)	XP_011511761.1:n.158+175_158+179dup
XM_011513460.1:c.158+175_158+179dup (IDUA)	XP_011511762.1:n.158+175_158+179dup
XR_924947.1:n.227+175_227+179dup (IDUA)
NM_000203.5:c.158+175_158+179dup (IDUA) MANE Select	NP_000194.2:n.158+175_158+179dup
XM_017008163.1:c.-1309+175_-1309+179dup (IDUA)	XP_016863652.1:n.-1309+175_-1309+179dup
NM_134425.3:c.576+3709_576+3713dup (SLC26A1)	NP_602297.1:n.576+3709_576+3713dup
NM_134425.4:c.576+3709_576+3713dup (SLC26A1)	NP_602297.1:n.576+3709_576+3713dup