Canonical Allele Identifier: CA2669475697

Gene: IDUA SLC26A1

Linked Data

• gnomAD v4: 4-987378-CCGTGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987379_987384del , CM000666.2:g.987379_987384del	GRCh38
NC_000004.11:g.981167_981172del , CM000666.1:g.981167_981172del	GRCh37
NC_000004.10:g.971167_971172del	NCBI36
NG_008103.1:g.5383_5388del
NG_033042.1:g.11053_11058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.158+137_158+142del (IDUA)	ENSP00000247933.4:n.158+137_158+142del
ENST00000514224.2:c.158+137_158+142del (IDUA) MANE Select	ENSP00000425081.2:n.158+137_158+142del
ENST00000247933.8:c.158+137_158+142del (IDUA)	ENSP00000247933.4:n.158+137_158+142del
ENST00000398520.6:c.576+3744_576+3749del (SLC26A1)	ENSP00000381532.2:n.576+3744_576+3749del
ENST00000502910.5:c.158+137_158+142del (IDUA)	ENSP00000422952.1:n.158+137_158+142del
ENST00000504568.5:c.156+137_156+142del (IDUA)
ENST00000506561.5:n.167+137_167+142del (IDUA)
ENST00000508168.5:n.177+137_177+142del (IDUA)
ENST00000514698.5:n.199+137_199+142del (IDUA)
ENST00000622731.4:c.576+3744_576+3749del (SLC26A1)	ENSP00000483506.1:n.576+3744_576+3749del
NM_000203.4:c.158+137_158+142del (IDUA)	NP_000194.2:n.158+137_158+142del
NM_134425.2:c.576+3744_576+3749del (SLC26A1)	NP_602297.1:n.576+3744_576+3749del
NR_110313.1:n.246+137_246+142del (IDUA)
XM_011513459.1:c.158+137_158+142del (IDUA)	XP_011511761.1:n.158+137_158+142del
XM_011513460.1:c.158+137_158+142del (IDUA)	XP_011511762.1:n.158+137_158+142del
XR_924947.1:n.227+137_227+142del (IDUA)
NM_000203.5:c.158+137_158+142del (IDUA) MANE Select	NP_000194.2:n.158+137_158+142del
XM_017008163.1:c.-1309+137_-1309+142del (IDUA)	XP_016863652.1:n.-1309+137_-1309+142del
NM_134425.3:c.576+3744_576+3749del (SLC26A1)	NP_602297.1:n.576+3744_576+3749del
NM_134425.4:c.576+3744_576+3749del (SLC26A1)	NP_602297.1:n.576+3744_576+3749del