Canonical Allele Identifier: CA1433050895

Gene: IDUA SLC26A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.987577_987583delinsGCAGGGC , CM000666.2:g.987577_987583delinsGCAGGGC	GRCh38
NC_000004.11:g.981365_981371delinsGCAGGGC , CM000666.1:g.981365_981371delinsGCAGGGC	GRCh37
NC_000004.10:g.971365_971371delinsGCAGGGC	NCBI36
NG_008103.1:g.5581_5587delinsGCAGGGC
NG_033042.1:g.10854_10860delinsGCCCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.159-232_159-226delinsGCAGGGC (IDUA)	ENSP00000247933.4:n.159-232_159-226delinsGCAGGGC
ENST00000514224.2:c.159-232_159-226delinsGCAGGGC (IDUA) MANE Select	ENSP00000425081.2:n.159-232_159-226delinsGCAGGGC
ENST00000247933.8:c.159-232_159-226delinsGCAGGGC (IDUA)	ENSP00000247933.4:n.159-232_159-226delinsGCAGGGC
ENST00000398520.6:c.576+3545_576+3551delinsGCCCTGC (SLC26A1)	ENSP00000381532.2:n.576+3545_576+3551delinsGCCCTGC
ENST00000502910.5:c.158+335_158+341delinsGCAGGGC (IDUA)	ENSP00000422952.1:n.158+335_158+341delinsGCAGGGC
ENST00000504568.5:c.157-232_157-226delinsGCAGGGC (IDUA)
ENST00000506561.5:n.168-232_168-226delinsGCAGGGC (IDUA)
ENST00000508168.5:n.177+335_177+341delinsGCAGGGC (IDUA)
ENST00000514698.5:n.199+335_199+341delinsGCAGGGC (IDUA)
ENST00000622731.4:c.576+3545_576+3551delinsGCCCTGC (SLC26A1)	ENSP00000483506.1:n.576+3545_576+3551delinsGCCCTGC
NM_000203.4:c.159-232_159-226delinsGCAGGGC (IDUA)	NP_000194.2:n.159-232_159-226delinsGCAGGGC
NM_134425.2:c.576+3545_576+3551delinsGCCCTGC (SLC26A1)	NP_602297.1:n.576+3545_576+3551delinsGCCCTGC
NR_110313.1:n.247-232_247-226delinsGCAGGGC (IDUA)
XM_011513459.1:c.158+335_158+341delinsGCAGGGC (IDUA)	XP_011511761.1:n.158+335_158+341delinsGCAGGGC
XM_011513460.1:c.158+335_158+341delinsGCAGGGC (IDUA)	XP_011511762.1:n.158+335_158+341delinsGCAGGGC
XR_924947.1:n.228-232_228-226delinsGCAGGGC (IDUA)
NM_000203.5:c.159-232_159-226delinsGCAGGGC (IDUA) MANE Select	NP_000194.2:n.159-232_159-226delinsGCAGGGC
XM_017008163.1:c.-1308-232_-1308-226delinsGCAGGGC (IDUA)	XP_016863652.1:n.-1308-232_-1308-226delinsGCAGGGC
NM_134425.3:c.576+3545_576+3551delinsGCCCTGC (SLC26A1)	NP_602297.1:n.576+3545_576+3551delinsGCCCTGC
NM_134425.4:c.576+3545_576+3551delinsGCCCTGC (SLC26A1)	NP_602297.1:n.576+3545_576+3551delinsGCCCTGC