Canonical Allele Identifier: CA2684468655
Community Standard Title: NM_000441.2(SLC26A4):c.1708-115_1708-106del
Gene: SLC26A4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107700986_107700995del , CM000669.2:g.107700986_107700995del GRCh38
NC_000007.13:g.107341431_107341440del , CM000669.1:g.107341431_107341440del GRCh37
NC_000007.12:g.107128667_107128676del NCBI36
NG_008489.1:g.45352_45361del

Transcript Alleles

HGVS Amino-acid Change
NM_000441.2:c.1708-115_1708-106del MANE Select NP_000432.1:n.1708-115_1708-106del
ENST00000644269.2:c.1708-115_1708-106del MANE Select ENSP00000494017.1:n.1708-115_1708-106del
NM_000441.1:c.1708-115_1708-106del NP_000432.1:n.1708-115_1708-106del
ENST00000265715.7:c.1708-115_1708-106del ENSP00000265715.3:n.1708-115_1708-106del
ENST00000480841.5:n.557-115_557-106del
ENST00000492030.2:n.90+811_90+820del
ENST00000644846.1:c.419-115_419-106del
XM_005250425.1:c.1708-115_1708-106del XP_005250482.1:n.1708-115_1708-106del
XM_005250425.2:c.1708-115_1708-106del XP_005250482.1:n.1708-115_1708-106del
XM_017012318.1:c.1630-115_1630-106del XP_016867807.1:n.1630-115_1630-106del
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