Canonical Allele Identifier: CA1433050910

Gene: IDUA SLC26A1

Linked Data

• dbSNP Id: rs1713834868

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987594_987598del , CM000666.2:g.987594_987598del	GRCh38
NC_000004.11:g.981382_981386del , CM000666.1:g.981382_981386del	GRCh37
NC_000004.10:g.971382_971386del	NCBI36
NG_008103.1:g.5598_5602del
NG_033042.1:g.10841_10845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.159-215_159-211del (IDUA)	ENSP00000247933.4:n.159-215_159-211del
ENST00000514224.2:c.159-215_159-211del (IDUA) MANE Select	ENSP00000425081.2:n.159-215_159-211del
ENST00000247933.8:c.159-215_159-211del (IDUA)	ENSP00000247933.4:n.159-215_159-211del
ENST00000398520.6:c.576+3532_576+3536del (SLC26A1)	ENSP00000381532.2:n.576+3532_576+3536del
ENST00000502910.5:c.158+352_158+356del (IDUA)	ENSP00000422952.1:n.158+352_158+356del
ENST00000504568.5:c.157-215_157-211del (IDUA)
ENST00000506561.5:n.168-215_168-211del (IDUA)
ENST00000508168.5:n.177+352_177+356del (IDUA)
ENST00000514698.5:n.199+352_199+356del (IDUA)
ENST00000622731.4:c.576+3532_576+3536del (SLC26A1)	ENSP00000483506.1:n.576+3532_576+3536del
NM_000203.4:c.159-215_159-211del (IDUA)	NP_000194.2:n.159-215_159-211del
NM_134425.2:c.576+3532_576+3536del (SLC26A1)	NP_602297.1:n.576+3532_576+3536del
NR_110313.1:n.247-215_247-211del (IDUA)
XM_011513459.1:c.158+352_158+356del (IDUA)	XP_011511761.1:n.158+352_158+356del
XM_011513460.1:c.158+352_158+356del (IDUA)	XP_011511762.1:n.158+352_158+356del
XR_924947.1:n.228-215_228-211del (IDUA)
NM_000203.5:c.159-215_159-211del (IDUA) MANE Select	NP_000194.2:n.159-215_159-211del
XM_017008163.1:c.-1308-215_-1308-211del (IDUA)	XP_016863652.1:n.-1308-215_-1308-211del
NM_134425.3:c.576+3532_576+3536del (SLC26A1)	NP_602297.1:n.576+3532_576+3536del
NM_134425.4:c.576+3532_576+3536del (SLC26A1)	NP_602297.1:n.576+3532_576+3536del