Canonical Allele Identifier: CA2695208353
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683509_107683510insTTAA , CM000669.2:g.107683509_107683510insTTAA GRCh38
NC_000007.13:g.107323954_107323955insTTAA , CM000669.1:g.107323954_107323955insTTAA GRCh37
NC_000007.12:g.107111190_107111191insTTAA NCBI36
NG_008489.1:g.27875_27876insTTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.973_974insTTAA MANE Select ENSP00000494017.1:p.Ala325ValfsTer6
ENST00000265715.7:c.973_974insTTAA ENSP00000265715.3:p.Ala325ValfsTer6
NM_000441.1:c.973_974insTTAA NP_000432.1:p.Ala325ValfsTer6
XM_005250425.1:c.973_974insTTAA XP_005250482.1:p.Ala325ValfsTer6
XM_006716025.2:c.973_974insTTAA XP_006716088.1:p.Ala325ValfsTer6
XM_005250425.2:c.973_974insTTAA XP_005250482.1:p.Ala325ValfsTer6
XM_006716025.3:c.973_974insTTAA XP_006716088.1:p.Ala325ValfsTer6
XM_017012318.1:c.973_974insTTAA XP_016867807.1:p.Ala325ValfsTer6
NM_000441.2:c.973_974insTTAA MANE Select NP_000432.1:p.Ala325ValfsTer6