Canonical Allele Identifier: CA1732726840
Gene: SLC26A4 HGNC NCBI
SLC26A4-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1790548377
gnomAD v4: 7-107661489-CGAGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107661491_107661494del , CM000669.2:g.107661491_107661494del GRCh38
NC_000007.13:g.107301936_107301939del , CM000669.1:g.107301936_107301939del GRCh37
NC_000007.12:g.107089172_107089175del NCBI36
NG_008489.1:g.5857_5860del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.-3-148_-3-145del (SLC26A4) MANE Select ENSP00000494017.1:n.-3-148_-3-145del
ENST00000265715.7:c.-3-148_-3-145del (SLC26A4) ENSP00000265715.3:n.-3-148_-3-145del
ENST00000440056.1:c.-3-148_-3-145del (SLC26A4) ENSP00000394760.1:n.-3-148_-3-145del
NM_000441.1:c.-3-148_-3-145del (SLC26A4) NP_000432.1:n.-3-148_-3-145del
NR_028137.1:n.197+109_197+112del (SLC26A4-AS1)
XM_005250425.1:c.-3-148_-3-145del (SLC26A4) XP_005250482.1:n.-3-148_-3-145del
XM_005250425.2:c.-3-148_-3-145del (SLC26A4) XP_005250482.1:n.-3-148_-3-145del
NM_000441.2:c.-3-148_-3-145del (SLC26A4) MANE Select NP_000432.1:n.-3-148_-3-145del
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