Canonical Allele Identifier: CA2695203101
Gene: SLC26A4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689071del , CM000669.2:g.107689071del GRCh38
NC_000007.13:g.107329516del , CM000669.1:g.107329516del GRCh37
NC_000007.12:g.107116752del NCBI36
NG_008489.1:g.33437del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1020del MANE Select ENSP00000494017.1:p.Pro341HisfsTer3
ENST00000265715.7:c.1020del ENSP00000265715.3:p.Pro341HisfsTer3
NM_000441.1:c.1020del NP_000432.1:p.Pro341HisfsTer3
XM_005250425.1:c.1020del XP_005250482.1:p.Pro341HisfsTer3
XM_006716025.2:c.1020del XP_006716088.1:p.Pro341HisfsTer3
XM_005250425.2:c.1020del XP_005250482.1:p.Pro341HisfsTer3
XM_006716025.3:c.1020del XP_006716088.1:p.Pro341HisfsTer3
XM_017012318.1:c.1020del XP_016867807.1:p.Pro341HisfsTer3
NM_000441.2:c.1020del MANE Select NP_000432.1:p.Pro341HisfsTer3
Search 100 bp 5'
Search 100 bp 3'