Canonical Allele Identifier: CA2695203109
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689184_107689186del , CM000669.2:g.107689184_107689186del GRCh38
NC_000007.13:g.107329629_107329631del , CM000669.1:g.107329629_107329631del GRCh37
NC_000007.12:g.107116865_107116867del NCBI36
NG_008489.1:g.33550_33552del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1133_1135del MANE Select ENSP00000494017.1:p.Thr378del
ENST00000265715.7:c.1133_1135del ENSP00000265715.3:p.Thr378del
NM_000441.1:c.1133_1135del NP_000432.1:p.Thr378del
XM_005250425.1:c.1133_1135del XP_005250482.1:p.Thr378del
XM_006716025.2:c.1133_1135del XP_006716088.1:p.Thr378del
XM_005250425.2:c.1133_1135del XP_005250482.1:p.Thr378del
XM_006716025.3:c.1133_1135del XP_006716088.1:p.Thr378del
XM_017012318.1:c.1133_1135del XP_016867807.1:p.Thr378del
NM_000441.2:c.1133_1135del MANE Select NP_000432.1:p.Thr378del