Canonical Allele Identifier: CA1433050777

Gene: IDUA SLC26A1

Linked Data

• dbSNP Id: rs1713815012
• gnomAD v4: 4-987366-G-GCCCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987370_987374dup , CM000666.2:g.987370_987374dup	GRCh38
NC_000004.11:g.981158_981162dup , CM000666.1:g.981158_981162dup	GRCh37
NC_000004.10:g.971158_971162dup	NCBI36
NG_008103.1:g.5374_5378dup
NG_033042.1:g.11066_11070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.158+128_158+132dup (IDUA)	ENSP00000247933.4:n.158+128_158+132dup
ENST00000514224.2:c.158+128_158+132dup (IDUA) MANE Select	ENSP00000425081.2:n.158+128_158+132dup
ENST00000247933.8:c.158+128_158+132dup (IDUA)	ENSP00000247933.4:n.158+128_158+132dup
ENST00000398520.6:c.576+3757_576+3761dup (SLC26A1)	ENSP00000381532.2:n.576+3757_576+3761dup
ENST00000502910.5:c.158+128_158+132dup (IDUA)	ENSP00000422952.1:n.158+128_158+132dup
ENST00000504568.5:c.156+128_156+132dup (IDUA)
ENST00000506561.5:n.167+128_167+132dup (IDUA)
ENST00000508168.5:n.177+128_177+132dup (IDUA)
ENST00000514698.5:n.199+128_199+132dup (IDUA)
ENST00000622731.4:c.576+3757_576+3761dup (SLC26A1)	ENSP00000483506.1:n.576+3757_576+3761dup
NM_000203.4:c.158+128_158+132dup (IDUA)	NP_000194.2:n.158+128_158+132dup
NM_134425.2:c.576+3757_576+3761dup (SLC26A1)	NP_602297.1:n.576+3757_576+3761dup
NR_110313.1:n.246+128_246+132dup (IDUA)
XM_011513459.1:c.158+128_158+132dup (IDUA)	XP_011511761.1:n.158+128_158+132dup
XM_011513460.1:c.158+128_158+132dup (IDUA)	XP_011511762.1:n.158+128_158+132dup
XR_924947.1:n.227+128_227+132dup (IDUA)
NM_000203.5:c.158+128_158+132dup (IDUA) MANE Select	NP_000194.2:n.158+128_158+132dup
XM_017008163.1:c.-1309+128_-1309+132dup (IDUA)	XP_016863652.1:n.-1309+128_-1309+132dup
NM_134425.3:c.576+3757_576+3761dup (SLC26A1)	NP_602297.1:n.576+3757_576+3761dup
NM_134425.4:c.576+3757_576+3761dup (SLC26A1)	NP_602297.1:n.576+3757_576+3761dup