Canonical Allele Identifier: CA275064

Gene: IDUA SLC26A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987841_987842del , CM000666.2:g.987841_987842del	GRCh38
NC_000004.11:g.981629_981630del , CM000666.1:g.981629_981630del	GRCh37
NC_000004.10:g.971629_971630del	NCBI36
NG_008103.1:g.5845_5846del
NG_033042.1:g.10595_10596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.191_192del (IDUA)	ENSP00000247933.4:p.Tyr64CysfsTer?
ENST00000398516.3:c.*991_*992del (SLC26A1) MANE Select	ENSP00000381528.2:n.*991_*992del
ENST00000514224.2:c.191_192del (IDUA) MANE Select	ENSP00000425081.2:p.Tyr64CysfsTer?
ENST00000247933.8:c.191_192del (IDUA)	ENSP00000247933.4:p.Tyr64CysfsTer?
ENST00000361661.6:c.*991_*992del (SLC26A1)	ENSP00000354721.2:n.*991_*992del
ENST00000398520.6:c.576+3286_576+3287del (SLC26A1)	ENSP00000381532.2:n.576+3286_576+3287del
ENST00000502910.5:c.158+599_158+600del (IDUA)	ENSP00000422952.1:n.158+599_158+600del
ENST00000504568.5:c.189_190del (IDUA)
ENST00000506561.5:n.200_201del (IDUA)
ENST00000508168.5:n.177+599_177+600del (IDUA)
ENST00000514698.5:n.199+599_199+600del (IDUA)
ENST00000622731.4:c.576+3286_576+3287del (SLC26A1)	ENSP00000483506.1:n.576+3286_576+3287del
NM_000203.4:c.191_192del (IDUA)	NP_000194.2:p.Tyr64CysfsTer?
NM_022042.3:c.*991_*992del (SLC26A1)	NP_071325.2:n.*991_*992del
NM_134425.2:c.576+3286_576+3287del (SLC26A1)	NP_602297.1:n.576+3286_576+3287del
NM_213613.3:c.*991_*992del (SLC26A1)	NP_998778.1:n.*991_*992del
NR_110313.1:n.279_280del (IDUA)
XM_006713856.2:c.*991_*992del (SLC26A1)	XP_006713919.1:n.*991_*992del
XM_011513459.1:c.158+599_158+600del (IDUA)	XP_011511761.1:n.158+599_158+600del
XM_011513460.1:c.158+599_158+600del (IDUA)	XP_011511762.1:n.158+599_158+600del
XR_924947.1:n.260_261del (IDUA)
NM_000203.5:c.191_192del (IDUA) MANE Select	NP_000194.2:p.Tyr64CysfsTer?
XM_017008163.1:c.-1276_-1275del (IDUA)	XP_016863652.1:n.-1276_-1275del
NM_022042.4:c.*991_*992del (SLC26A1) MANE Select	NP_071325.2:n.*991_*992del
NM_134425.3:c.576+3286_576+3287del (SLC26A1)	NP_602297.1:n.576+3286_576+3287del
NM_213613.4:c.*991_*992del (SLC26A1)	NP_998778.1:n.*991_*992del
NM_134425.4:c.576+3286_576+3287del (SLC26A1)	NP_602297.1:n.576+3286_576+3287del