Canonical Allele Identifier: CA2684468751
Gene: SLC26A4 HGNC NCBI

Linked Data

gnomAD v4: 7-107710246-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710247del , CM000669.2:g.107710247del GRCh38
NC_000007.13:g.107350692del , CM000669.1:g.107350692del GRCh37
NC_000007.12:g.107137928del NCBI36
NG_008489.1:g.54613del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2235+48del MANE Select ENSP00000494017.1:n.2235+48del
ENST00000644846.1:c.891+48del
ENST00000265715.7:c.2235+48del ENSP00000265715.3:n.2235+48del
ENST00000492030.2:n.421+48del
NM_000441.1:c.2235+48del NP_000432.1:n.2235+48del
XM_005250425.1:c.2235+48del XP_005250482.1:n.2235+48del
XM_005250425.2:c.2235+48del XP_005250482.1:n.2235+48del
XM_017012318.1:c.2157+48del XP_016867807.1:n.2157+48del
NM_000441.2:c.2235+48del MANE Select NP_000432.1:n.2235+48del
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