Canonical Allele Identifier: CA1433051018
Gene: IDUA HGNC NCBI
SLC26A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.987777_987782delinsTCGGGA , CM000666.2:g.987777_987782delinsTCGGGA GRCh38
NC_000004.11:g.981565_981570delinsTCGGGA , CM000666.1:g.981565_981570delinsTCGGGA GRCh37
NC_000004.10:g.971565_971570delinsTCGGGA NCBI36
NG_008103.1:g.5781_5786delinsTCGGGA
NG_033042.1:g.10655_10660delinsTCCCGA

Transcript Alleles

HGVS Amino-acid change
ENST00000247933.9:c.159-32_159-27delinsTCGGGA (IDUA) ENSP00000247933.4:n.159-32_159-27delinsTC...
ENST00000398516.3:c.*1051_*1056delinsTCCCGA (SLC26A1) MANE Select ENSP00000381528.2:n.*1051_*1056delinsTCCC...
ENST00000514224.2:c.159-32_159-27delinsTCGGGA (IDUA) MANE Select ENSP00000425081.2:n.159-32_159-27delinsTC...
ENST00000247933.8:c.159-32_159-27delinsTCGGGA (IDUA) ENSP00000247933.4:n.159-32_159-27delinsTC...
ENST00000361661.6:c.*1051_*1056delinsTCCCGA (SLC26A1) ENSP00000354721.2:n.*1051_*1056delinsTCCC...
ENST00000398520.6:c.576+3346_576+3351delinsTCCCGA (SLC26A1) ENSP00000381532.2:n.576+3346_576+3351deli...
ENST00000502910.5:c.158+535_158+540delinsTCGGGA (IDUA) ENSP00000422952.1:n.158+535_158+540delins...
ENST00000504568.5:c.157-32_157-27delinsTCGGGA (IDUA)
ENST00000506561.5:n.168-32_168-27delinsTCGGGA (IDUA)
ENST00000508168.5:n.177+535_177+540delinsTCGGGA (IDUA)
ENST00000514698.5:n.199+535_199+540delinsTCGGGA (IDUA)
ENST00000622731.4:c.576+3346_576+3351delinsTCCCGA (SLC26A1) ENSP00000483506.1:n.576+3346_576+3351deli...
NM_000203.4:c.159-32_159-27delinsTCGGGA (IDUA) NP_000194.2:n.159-32_159-27delinsTCGGGA
NM_022042.3:c.*1051_*1056delinsTCCCGA (SLC26A1) NP_071325.2:n.*1051_*1056delinsTCCCGA
NM_134425.2:c.576+3346_576+3351delinsTCCCGA (SLC26A1) NP_602297.1:n.576+3346_576+3351delinsTCCC...
NM_213613.3:c.*1051_*1056delinsTCCCGA (SLC26A1) NP_998778.1:n.*1051_*1056delinsTCCCGA
NR_110313.1:n.247-32_247-27delinsTCGGGA (IDUA)
XM_006713856.2:c.*1051_*1056delinsTCCCGA (SLC26A1) XP_006713919.1:n.*1051_*1056delinsTCCCGA
XM_011513459.1:c.158+535_158+540delinsTCGGGA (IDUA) XP_011511761.1:n.158+535_158+540delinsTCG...
XM_011513460.1:c.158+535_158+540delinsTCGGGA (IDUA) XP_011511762.1:n.158+535_158+540delinsTCG...
XR_924947.1:n.228-32_228-27delinsTCGGGA (IDUA)
NM_000203.5:c.159-32_159-27delinsTCGGGA (IDUA) MANE Select NP_000194.2:n.159-32_159-27delinsTCGGGA
XM_017008163.1:c.-1308-32_-1308-27delinsTCGGGA (IDUA) XP_016863652.1:n.-1308-32_-1308-27delinsT...
NM_022042.4:c.*1051_*1056delinsTCCCGA (SLC26A1) MANE Select NP_071325.2:n.*1051_*1056delinsTCCCGA
NM_134425.3:c.576+3346_576+3351delinsTCCCGA (SLC26A1) NP_602297.1:n.576+3346_576+3351delinsTCCC...
NM_213613.4:c.*1051_*1056delinsTCCCGA (SLC26A1) NP_998778.1:n.*1051_*1056delinsTCCCGA
NM_134425.4:c.576+3346_576+3351delinsTCCCGA (SLC26A1) NP_602297.1:n.576+3346_576+3351delinsTCCC...