Canonical Allele Identifier: CA2669475667

Gene: IDUA SLC26A1

Linked Data

• gnomAD v4: 4-987369-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987369_987370insCA , CM000666.2:g.987369_987370insCA	GRCh38
NC_000004.11:g.981157_981158insCA , CM000666.1:g.981157_981158insCA	GRCh37
NC_000004.10:g.971157_971158insCA	NCBI36
NG_008103.1:g.5373_5374insCA
NG_033042.1:g.11067_11068insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.158+127_158+128insCA (IDUA)	ENSP00000247933.4:n.158+127_158+128insCA
ENST00000514224.2:c.158+127_158+128insCA (IDUA) MANE Select	ENSP00000425081.2:n.158+127_158+128insCA
ENST00000247933.8:c.158+127_158+128insCA (IDUA)	ENSP00000247933.4:n.158+127_158+128insCA
ENST00000398520.6:c.576+3758_576+3759insTG (SLC26A1)	ENSP00000381532.2:n.576+3758_576+3759insTG
ENST00000502910.5:c.158+127_158+128insCA (IDUA)	ENSP00000422952.1:n.158+127_158+128insCA
ENST00000504568.5:c.156+127_156+128insCA (IDUA)
ENST00000506561.5:n.167+127_167+128insCA (IDUA)
ENST00000508168.5:n.177+127_177+128insCA (IDUA)
ENST00000514698.5:n.199+127_199+128insCA (IDUA)
ENST00000622731.4:c.576+3758_576+3759insTG (SLC26A1)	ENSP00000483506.1:n.576+3758_576+3759insTG
NM_000203.4:c.158+127_158+128insCA (IDUA)	NP_000194.2:n.158+127_158+128insCA
NM_134425.2:c.576+3758_576+3759insTG (SLC26A1)	NP_602297.1:n.576+3758_576+3759insTG
NR_110313.1:n.246+127_246+128insCA (IDUA)
XM_011513459.1:c.158+127_158+128insCA (IDUA)	XP_011511761.1:n.158+127_158+128insCA
XM_011513460.1:c.158+127_158+128insCA (IDUA)	XP_011511762.1:n.158+127_158+128insCA
XR_924947.1:n.227+127_227+128insCA (IDUA)
NM_000203.5:c.158+127_158+128insCA (IDUA) MANE Select	NP_000194.2:n.158+127_158+128insCA
XM_017008163.1:c.-1309+127_-1309+128insCA (IDUA)	XP_016863652.1:n.-1309+127_-1309+128insCA
NM_134425.3:c.576+3758_576+3759insTG (SLC26A1)	NP_602297.1:n.576+3758_576+3759insTG
NM_134425.4:c.576+3758_576+3759insTG (SLC26A1)	NP_602297.1:n.576+3758_576+3759insTG