Canonical Allele Identifier: CA2684468651
Community Standard Title: NM_000441.2(SLC26A4):c.1708-116dup
Gene: SLC26A4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107700985dup , CM000669.2:g.107700985dup GRCh38
NC_000007.13:g.107341430dup , CM000669.1:g.107341430dup GRCh37
NC_000007.12:g.107128666dup NCBI36
NG_008489.1:g.45351dup

Transcript Alleles

HGVS Amino-acid Change
NM_000441.2:c.1708-116dup MANE Select NP_000432.1:n.1708-116dup
ENST00000644269.2:c.1708-116dup MANE Select ENSP00000494017.1:n.1708-116dup
NM_000441.1:c.1708-116dup NP_000432.1:n.1708-116dup
ENST00000265715.7:c.1708-116dup ENSP00000265715.3:n.1708-116dup
ENST00000480841.5:n.557-116dup
ENST00000492030.2:n.90+810dup
ENST00000644846.1:c.419-116dup
XM_005250425.1:c.1708-116dup XP_005250482.1:n.1708-116dup
XM_005250425.2:c.1708-116dup XP_005250482.1:n.1708-116dup
XM_017012318.1:c.1630-116dup XP_016867807.1:n.1630-116dup
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