Canonical Allele Identifier: CA2578013776

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987591_987596dup , CM000666.2:g.987591_987596dup	GRCh38
NC_000004.11:g.981379_981384dup , CM000666.1:g.981379_981384dup	GRCh37
NC_000004.10:g.971379_971384dup	NCBI36
NG_008103.1:g.5595_5600dup
NG_033042.1:g.10841_10846dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.159-218_159-213dup (IDUA)	ENSP00000247933.4:n.159-218_159-213dup
ENST00000514224.2:c.159-218_159-213dup (IDUA) MANE Select	ENSP00000425081.2:n.159-218_159-213dup
ENST00000247933.8:c.159-218_159-213dup (IDUA)	ENSP00000247933.4:n.159-218_159-213dup
ENST00000398520.6:c.576+3532_576+3537dup (SLC26A1)	ENSP00000381532.2:n.576+3532_576+3537dup
ENST00000502910.5:c.158+349_158+354dup (IDUA)	ENSP00000422952.1:n.158+349_158+354dup
ENST00000504568.5:c.157-218_157-213dup (IDUA)
ENST00000506561.5:n.168-218_168-213dup (IDUA)
ENST00000508168.5:n.177+349_177+354dup (IDUA)
ENST00000514698.5:n.199+349_199+354dup (IDUA)
ENST00000622731.4:c.576+3532_576+3537dup (SLC26A1)	ENSP00000483506.1:n.576+3532_576+3537dup
NM_000203.4:c.159-218_159-213dup (IDUA)	NP_000194.2:n.159-218_159-213dup
NM_134425.2:c.576+3532_576+3537dup (SLC26A1)	NP_602297.1:n.576+3532_576+3537dup
NR_110313.1:n.247-218_247-213dup (IDUA)
XM_011513459.1:c.158+349_158+354dup (IDUA)	XP_011511761.1:n.158+349_158+354dup
XM_011513460.1:c.158+349_158+354dup (IDUA)	XP_011511762.1:n.158+349_158+354dup
XR_924947.1:n.228-218_228-213dup (IDUA)
NM_000203.5:c.159-218_159-213dup (IDUA) MANE Select	NP_000194.2:n.159-218_159-213dup
XM_017008163.1:c.-1308-218_-1308-213dup (IDUA)	XP_016863652.1:n.-1308-218_-1308-213dup
NM_134425.3:c.576+3532_576+3537dup (SLC26A1)	NP_602297.1:n.576+3532_576+3537dup
NM_134425.4:c.576+3532_576+3537dup (SLC26A1)	NP_602297.1:n.576+3532_576+3537dup