Canonical Allele Identifier: CA577029462
Gene: SLC26A4 HGNC NCBI
SLC26A4-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1221385580

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107661323_107661328del , CM000669.2:g.107661323_107661328del GRCh38
NC_000007.13:g.107301768_107301773del , CM000669.1:g.107301768_107301773del GRCh37
NC_000007.12:g.107089004_107089009del NCBI36
NG_008489.1:g.5689_5694del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.-3-316_-3-311del (SLC26A4) MANE Select ENSP00000494017.1:n.-3-316_-3-311del
ENST00000265715.7:c.-3-316_-3-311del (SLC26A4) ENSP00000265715.3:n.-3-316_-3-311del
ENST00000440056.1:c.-4+116_-4+121del (SLC26A4) ENSP00000394760.1:n.-4+116_-4+121del
NM_000441.1:c.-3-316_-3-311del (SLC26A4) NP_000432.1:n.-3-316_-3-311del
NR_028137.1:n.197+274_197+279del (SLC26A4-AS1)
XM_005250425.1:c.-4+116_-4+121del (SLC26A4) XP_005250482.1:n.-4+116_-4+121del
XM_005250425.2:c.-4+116_-4+121del (SLC26A4) XP_005250482.1:n.-4+116_-4+121del
NM_000441.2:c.-3-316_-3-311del (SLC26A4) MANE Select NP_000432.1:n.-3-316_-3-311del