Canonical Allele Identifier: CA2777354286
Gene: SLC26A4 HGNC NCBI
SLC26A4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107661518_107661519del , CM000669.2:g.107661518_107661519del GRCh38
NC_000007.13:g.107301963_107301964del , CM000669.1:g.107301963_107301964del GRCh37
NC_000007.12:g.107089199_107089200del NCBI36
NG_008489.1:g.5884_5885del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.-3-121_-3-120del (SLC26A4) MANE Select ENSP00000494017.1:n.-3-121_-3-120del
ENST00000265715.7:c.-3-121_-3-120del (SLC26A4) ENSP00000265715.3:n.-3-121_-3-120del
ENST00000440056.1:c.-3-121_-3-120del (SLC26A4) ENSP00000394760.1:n.-3-121_-3-120del
NM_000441.1:c.-3-121_-3-120del (SLC26A4) NP_000432.1:n.-3-121_-3-120del
NR_028137.1:n.197+85_197+86del (SLC26A4-AS1)
XM_005250425.1:c.-3-121_-3-120del (SLC26A4) XP_005250482.1:n.-3-121_-3-120del
XM_005250425.2:c.-3-121_-3-120del (SLC26A4) XP_005250482.1:n.-3-121_-3-120del
NM_000441.2:c.-3-121_-3-120del (SLC26A4) MANE Select NP_000432.1:n.-3-121_-3-120del