Canonical Allele Identifier: CA91144904

Gene: IDUA SLC26A1

Linked Data

• dbSNP Id: rs943897582
• gnomAD v2: 4-981365-G-GCAGGGC
• gnomAD v3: 4-987577-G-GCAGGGC
• gnomAD v4: 4-987577-G-GCAGGGC
• MyVariant Identifiers: chr4:g.981371_981372insCAGGGC (hg19) ; chr4:g.981365_981366insCAGGGC (hg19) ; chr4:g.987583_987584insCAGGGC (hg38) ; chr4:g.987577_987578insCAGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987590_987595dup , CM000666.2:g.987590_987595dup	GRCh38
NC_000004.11:g.981378_981383dup , CM000666.1:g.981378_981383dup	GRCh37
NC_000004.10:g.971378_971383dup	NCBI36
NG_008103.1:g.5594_5599dup
NG_033042.1:g.10854_10859dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.159-219_159-214dup (IDUA)	ENSP00000247933.4:n.159-219_159-214dup
ENST00000514224.2:c.159-219_159-214dup (IDUA) MANE Select	ENSP00000425081.2:n.159-219_159-214dup
ENST00000247933.8:c.159-219_159-214dup (IDUA)	ENSP00000247933.4:n.159-219_159-214dup
ENST00000398520.6:c.576+3545_576+3550dup (SLC26A1)	ENSP00000381532.2:n.576+3545_576+3550dup
ENST00000502910.5:c.158+348_158+353dup (IDUA)	ENSP00000422952.1:n.158+348_158+353dup
ENST00000504568.5:c.157-219_157-214dup (IDUA)
ENST00000506561.5:n.168-219_168-214dup (IDUA)
ENST00000508168.5:n.177+348_177+353dup (IDUA)
ENST00000514698.5:n.199+348_199+353dup (IDUA)
ENST00000622731.4:c.576+3545_576+3550dup (SLC26A1)	ENSP00000483506.1:n.576+3545_576+3550dup
NM_000203.4:c.159-219_159-214dup (IDUA)	NP_000194.2:n.159-219_159-214dup
NM_134425.2:c.576+3545_576+3550dup (SLC26A1)	NP_602297.1:n.576+3545_576+3550dup
NR_110313.1:n.247-219_247-214dup (IDUA)
XM_011513459.1:c.158+348_158+353dup (IDUA)	XP_011511761.1:n.158+348_158+353dup
XM_011513460.1:c.158+348_158+353dup (IDUA)	XP_011511762.1:n.158+348_158+353dup
XR_924947.1:n.228-219_228-214dup (IDUA)
NM_000203.5:c.159-219_159-214dup (IDUA) MANE Select	NP_000194.2:n.159-219_159-214dup
XM_017008163.1:c.-1308-219_-1308-214dup (IDUA)	XP_016863652.1:n.-1308-219_-1308-214dup
NM_134425.3:c.576+3545_576+3550dup (SLC26A1)	NP_602297.1:n.576+3545_576+3550dup
NM_134425.4:c.576+3545_576+3550dup (SLC26A1)	NP_602297.1:n.576+3545_576+3550dup