Canonical Allele Identifier: CA1732727292
Gene: SLC26A4 HGNC NCBI
SLC26A4-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1790561287

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107661762_107661791del , CM000669.2:g.107661762_107661791del GRCh38
NC_000007.13:g.107302207_107302236del , CM000669.1:g.107302207_107302236del GRCh37
NC_000007.12:g.107089443_107089472del NCBI36
NG_008489.1:g.6128_6157del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.121_150del (SLC26A4) MANE Select ENSP00000494017.1:p.Gln41_Leu50del
ENST00000265715.7:c.121_150del (SLC26A4) ENSP00000265715.3:p.Gln41_Leu50del
ENST00000440056.1:c.121_150del (SLC26A4) ENSP00000394760.1:p.Gln41_Leu50del
NM_000441.1:c.121_150del (SLC26A4) NP_000432.1:p.Gln41_Leu50del
NR_028137.1:n.13_42del (SLC26A4-AS1)
XM_005250425.1:c.121_150del (SLC26A4) XP_005250482.1:p.Gln41_Leu50del
XM_006716025.2:c.121_150del (SLC26A4) XP_006716088.1:p.Gln41_Leu50del
XM_005250425.2:c.121_150del (SLC26A4) XP_005250482.1:p.Gln41_Leu50del
XM_006716025.3:c.121_150del (SLC26A4) XP_006716088.1:p.Gln41_Leu50del
XM_017012318.1:c.121_150del (SLC26A4) XP_016867807.1:p.Gln41_Leu50del
NM_000441.2:c.121_150del (SLC26A4) MANE Select NP_000432.1:p.Gln41_Leu50del