Canonical Allele Identifier: CA1732726948
Gene: SLC26A4 HGNC NCBI
SLC26A4-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1790551952

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107661605_107661621del , CM000669.2:g.107661605_107661621del GRCh38
NC_000007.13:g.107302050_107302066del , CM000669.1:g.107302050_107302066del GRCh37
NC_000007.12:g.107089286_107089302del NCBI36
NG_008489.1:g.5971_5987del

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.-3-34_-3-18del (SLC26A4) MANE Select ENSP00000494017.1:n.-3-34_-3-18del
ENST00000265715.7:c.-3-34_-3-18del (SLC26A4) ENSP00000265715.3:n.-3-34_-3-18del
ENST00000440056.1:c.-3-34_-3-18del (SLC26A4) ENSP00000394760.1:n.-3-34_-3-18del
NM_000441.1:c.-3-34_-3-18del (SLC26A4) NP_000432.1:n.-3-34_-3-18del
NR_028137.1:n.181_197del (SLC26A4-AS1)
XM_005250425.1:c.-3-34_-3-18del (SLC26A4) XP_005250482.1:n.-3-34_-3-18del
XM_005250425.2:c.-3-34_-3-18del (SLC26A4) XP_005250482.1:n.-3-34_-3-18del
NM_000441.2:c.-3-34_-3-18del (SLC26A4) MANE Select NP_000432.1:n.-3-34_-3-18del