Canonical Allele Identifier: CA2669476090

Gene: IDUA SLC26A1

Linked Data

• gnomAD v4: 4-987674-CATTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987678_987682del , CM000666.2:g.987678_987682del	GRCh38
NC_000004.11:g.981466_981470del , CM000666.1:g.981466_981470del	GRCh37
NC_000004.10:g.971466_971470del	NCBI36
NG_008103.1:g.5682_5686del
NG_033042.1:g.10758_10762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.159-131_159-127del (IDUA)	ENSP00000247933.4:n.159-131_159-127del
ENST00000398516.3:c.*1154_*1158del (SLC26A1) MANE Select	ENSP00000381528.2:n.*1154_*1158del
ENST00000514224.2:c.159-131_159-127del (IDUA) MANE Select	ENSP00000425081.2:n.159-131_159-127del
ENST00000247933.8:c.159-131_159-127del (IDUA)	ENSP00000247933.4:n.159-131_159-127del
ENST00000361661.6:c.*1154_*1158del (SLC26A1)	ENSP00000354721.2:n.*1154_*1158del
ENST00000398520.6:c.576+3449_576+3453del (SLC26A1)	ENSP00000381532.2:n.576+3449_576+3453del
ENST00000502910.5:c.158+436_158+440del (IDUA)	ENSP00000422952.1:n.158+436_158+440del
ENST00000504568.5:c.157-131_157-127del (IDUA)
ENST00000506561.5:n.168-131_168-127del (IDUA)
ENST00000508168.5:n.177+436_177+440del (IDUA)
ENST00000514698.5:n.199+436_199+440del (IDUA)
ENST00000622731.4:c.576+3449_576+3453del (SLC26A1)	ENSP00000483506.1:n.576+3449_576+3453del
NM_000203.4:c.159-131_159-127del (IDUA)	NP_000194.2:n.159-131_159-127del
NM_022042.3:c.*1154_*1158del (SLC26A1)	NP_071325.2:n.*1154_*1158del
NM_134425.2:c.576+3449_576+3453del (SLC26A1)	NP_602297.1:n.576+3449_576+3453del
NM_213613.3:c.*1154_*1158del (SLC26A1)	NP_998778.1:n.*1154_*1158del
NR_110313.1:n.247-131_247-127del (IDUA)
XM_006713856.2:c.*1154_*1158del (SLC26A1)	XP_006713919.1:n.*1154_*1158del
XM_011513459.1:c.158+436_158+440del (IDUA)	XP_011511761.1:n.158+436_158+440del
XM_011513460.1:c.158+436_158+440del (IDUA)	XP_011511762.1:n.158+436_158+440del
XR_924947.1:n.228-131_228-127del (IDUA)
NM_000203.5:c.159-131_159-127del (IDUA) MANE Select	NP_000194.2:n.159-131_159-127del
XM_017008163.1:c.-1308-131_-1308-127del (IDUA)	XP_016863652.1:n.-1308-131_-1308-127del
NM_022042.4:c.*1154_*1158del (SLC26A1) MANE Select	NP_071325.2:n.*1154_*1158del
NM_134425.3:c.576+3449_576+3453del (SLC26A1)	NP_602297.1:n.576+3449_576+3453del
NM_213613.4:c.*1154_*1158del (SLC26A1)	NP_998778.1:n.*1154_*1158del
NM_134425.4:c.576+3449_576+3453del (SLC26A1)	NP_602297.1:n.576+3449_576+3453del