Canonical Allele Identifier: CA913111823
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710095_107710098del , CM000669.2:g.107710095_107710098del GRCh38
NC_000007.13:g.107350540_107350543del , CM000669.1:g.107350540_107350543del GRCh37
NC_000007.12:g.107137776_107137779del NCBI36
NG_008489.1:g.54461_54464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2131_2134del MANE Select ENSP00000494017.1:p.Asp711ThrfsTer9
ENST00000644846.1:c.787_790del
ENST00000265715.7:c.2131_2134del ENSP00000265715.3:p.Asp711ThrfsTer9
ENST00000492030.2:n.377-60_377-57del
NM_000441.1:c.2131_2134del NP_000432.1:p.Asp711ThrfsTer9
XM_005250425.1:c.2131_2134del XP_005250482.1:p.Asp711ThrfsTer9
XM_005250425.2:c.2131_2134del XP_005250482.1:p.Asp711ThrfsTer9
XM_017012318.1:c.2053_2056del XP_016867807.1:p.Asp685ThrfsTer9
NM_000441.2:c.2131_2134del MANE Select NP_000432.1:p.Asp711ThrfsTer9