Canonical Allele Identifier: CA658795312
Community Standard Title: NM_000441.2(SLC26A4):c.882_883del (p.His294GlnfsTer?)
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683318_107683319del , CM000669.2:g.107683318_107683319del GRCh38
NC_000007.13:g.107323763_107323764del , CM000669.1:g.107323763_107323764del GRCh37
NC_000007.12:g.107110999_107111000del NCBI36
NG_008489.1:g.27684_27685del

Transcript Alleles

HGVS Amino-acid Change
NM_000441.2:c.882_883del MANE Select NP_000432.1:p.His294GlnfsTer?
ENST00000644269.2:c.882_883del MANE Select ENSP00000494017.1:p.His294GlnfsTer?
NM_000441.1:c.882_883del NP_000432.1:p.His294GlnfsTer?
ENST00000265715.7:c.882_883del ENSP00000265715.3:p.His294GlnfsTer?
XM_005250425.1:c.882_883del XP_005250482.1:p.His294GlnfsTer?
XM_005250425.2:c.882_883del XP_005250482.1:p.His294GlnfsTer?
XM_006716025.2:c.882_883del XP_006716088.1:p.His294GlnfsTer?
XM_006716025.3:c.882_883del XP_006716088.1:p.His294GlnfsTer?
XM_017012318.1:c.882_883del XP_016867807.1:p.His294GlnfsTer?