Canonical Allele Identifier: CA2669475907

Gene: IDUA SLC26A1

Linked Data

• gnomAD v4: 4-987577-G-GCAGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987582_987583insACAGGG , CM000666.2:g.987582_987583insACAGGG	GRCh38
NC_000004.11:g.981370_981371insACAGGG , CM000666.1:g.981370_981371insACAGGG	GRCh37
NC_000004.10:g.971370_971371insACAGGG	NCBI36
NG_008103.1:g.5586_5587insACAGGG
NG_033042.1:g.10859_10860insTCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.159-227_159-226insACAGGG (IDUA)	ENSP00000247933.4:n.159-227_159-226insACAGGG
ENST00000514224.2:c.159-227_159-226insACAGGG (IDUA) MANE Select	ENSP00000425081.2:n.159-227_159-226insACAGGG
ENST00000247933.8:c.159-227_159-226insACAGGG (IDUA)	ENSP00000247933.4:n.159-227_159-226insACAGGG
ENST00000398520.6:c.576+3550_576+3551insTCCCTG (SLC26A1)	ENSP00000381532.2:n.576+3550_576+3551insTCCCTG
ENST00000502910.5:c.158+340_158+341insACAGGG (IDUA)	ENSP00000422952.1:n.158+340_158+341insACAGGG
ENST00000504568.5:c.157-227_157-226insACAGGG (IDUA)
ENST00000506561.5:n.168-227_168-226insACAGGG (IDUA)
ENST00000508168.5:n.177+340_177+341insACAGGG (IDUA)
ENST00000514698.5:n.199+340_199+341insACAGGG (IDUA)
ENST00000622731.4:c.576+3550_576+3551insTCCCTG (SLC26A1)	ENSP00000483506.1:n.576+3550_576+3551insTCCCTG
NM_000203.4:c.159-227_159-226insACAGGG (IDUA)	NP_000194.2:n.159-227_159-226insACAGGG
NM_134425.2:c.576+3550_576+3551insTCCCTG (SLC26A1)	NP_602297.1:n.576+3550_576+3551insTCCCTG
NR_110313.1:n.247-227_247-226insACAGGG (IDUA)
XM_011513459.1:c.158+340_158+341insACAGGG (IDUA)	XP_011511761.1:n.158+340_158+341insACAGGG
XM_011513460.1:c.158+340_158+341insACAGGG (IDUA)	XP_011511762.1:n.158+340_158+341insACAGGG
XR_924947.1:n.228-227_228-226insACAGGG (IDUA)
NM_000203.5:c.159-227_159-226insACAGGG (IDUA) MANE Select	NP_000194.2:n.159-227_159-226insACAGGG
XM_017008163.1:c.-1308-227_-1308-226insACAGGG (IDUA)	XP_016863652.1:n.-1308-227_-1308-226insACAGGG
NM_134425.3:c.576+3550_576+3551insTCCCTG (SLC26A1)	NP_602297.1:n.576+3550_576+3551insTCCCTG
NM_134425.4:c.576+3550_576+3551insTCCCTG (SLC26A1)	NP_602297.1:n.576+3550_576+3551insTCCCTG