Canonical Allele Identifier: CA91145999

Gene: IDUA SLC26A1

Linked Data

• dbSNP Id: rs768952959
• MyVariant Identifiers: chr4:g.981573_981575del (hg19) ; chr4:g.987785_987787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987785_987787del , CM000666.2:g.987785_987787del	GRCh38
NC_000004.11:g.981573_981575del , CM000666.1:g.981573_981575del	GRCh37
NC_000004.10:g.971573_971575del	NCBI36
NG_008103.1:g.5789_5791del
NG_033042.1:g.10650_10652del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.159-24_159-22del (IDUA)	ENSP00000247933.4:n.159-24_159-22del
ENST00000398516.3:c.*1046_*1048del (SLC26A1) MANE Select	ENSP00000381528.2:n.*1046_*1048del
ENST00000514224.2:c.159-24_159-22del (IDUA) MANE Select	ENSP00000425081.2:n.159-24_159-22del
ENST00000247933.8:c.159-24_159-22del (IDUA)	ENSP00000247933.4:n.159-24_159-22del
ENST00000361661.6:c.*1046_*1048del (SLC26A1)	ENSP00000354721.2:n.*1046_*1048del
ENST00000398520.6:c.576+3341_576+3343del (SLC26A1)	ENSP00000381532.2:n.576+3341_576+3343del
ENST00000502910.5:c.158+543_158+545del (IDUA)	ENSP00000422952.1:n.158+543_158+545del
ENST00000504568.5:c.157-24_157-22del (IDUA)
ENST00000506561.5:n.168-24_168-22del (IDUA)
ENST00000508168.5:n.177+543_177+545del (IDUA)
ENST00000514698.5:n.199+543_199+545del (IDUA)
ENST00000622731.4:c.576+3341_576+3343del (SLC26A1)	ENSP00000483506.1:n.576+3341_576+3343del
NM_000203.4:c.159-24_159-22del (IDUA)	NP_000194.2:n.159-24_159-22del
NM_022042.3:c.*1046_*1048del (SLC26A1)	NP_071325.2:n.*1046_*1048del
NM_134425.2:c.576+3341_576+3343del (SLC26A1)	NP_602297.1:n.576+3341_576+3343del
NM_213613.3:c.*1046_*1048del (SLC26A1)	NP_998778.1:n.*1046_*1048del
NR_110313.1:n.247-24_247-22del (IDUA)
XM_006713856.2:c.*1046_*1048del (SLC26A1)	XP_006713919.1:n.*1046_*1048del
XM_011513459.1:c.158+543_158+545del (IDUA)	XP_011511761.1:n.158+543_158+545del
XM_011513460.1:c.158+543_158+545del (IDUA)	XP_011511762.1:n.158+543_158+545del
XR_924947.1:n.228-24_228-22del (IDUA)
NM_000203.5:c.159-24_159-22del (IDUA) MANE Select	NP_000194.2:n.159-24_159-22del
XM_017008163.1:c.-1308-24_-1308-22del (IDUA)	XP_016863652.1:n.-1308-24_-1308-22del
NM_022042.4:c.*1046_*1048del (SLC26A1) MANE Select	NP_071325.2:n.*1046_*1048del
NM_134425.3:c.576+3341_576+3343del (SLC26A1)	NP_602297.1:n.576+3341_576+3343del
NM_213613.4:c.*1046_*1048del (SLC26A1)	NP_998778.1:n.*1046_*1048del
NM_134425.4:c.576+3341_576+3343del (SLC26A1)	NP_602297.1:n.576+3341_576+3343del