Canonical Allele Identifier: CA913111824
Gene: SLC26A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107350583dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710138dup , CM000669.2:g.107710138dup GRCh38
NC_000007.13:g.107350583dup , CM000669.1:g.107350583dup GRCh37
NC_000007.12:g.107137819dup NCBI36
NG_008489.1:g.54504dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2174dup MANE Select ENSP00000494017.1:p.Ile726TyrfsTer28
ENST00000644846.1:c.830dup
ENST00000265715.7:c.2174dup ENSP00000265715.3:p.Ile726TyrfsTer28
ENST00000492030.2:n.377-17dup
NM_000441.1:c.2174dup NP_000432.1:p.Ile726TyrfsTer28
XM_005250425.1:c.2174dup XP_005250482.1:p.Ile726TyrfsTer28
XM_005250425.2:c.2174dup XP_005250482.1:p.Ile726TyrfsTer28
XM_017012318.1:c.2096dup XP_016867807.1:p.Ile700TyrfsTer28
NM_000441.2:c.2174dup MANE Select NP_000432.1:p.Ile726TyrfsTer28