Canonical Allele Identifier: CA2573141439
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs2129319941
gnomAD v4: 7-107710157-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710157_107710158insA , CM000669.2:g.107710157_107710158insA GRCh38
NC_000007.13:g.107350602_107350603insA , CM000669.1:g.107350602_107350603insA GRCh37
NC_000007.12:g.107137838_107137839insA NCBI36
NG_008489.1:g.54523_54524insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2193_2194insA MANE Select ENSP00000494017.1:p.Gln732ThrfsTer22
ENST00000644846.1:c.849_850insA
ENST00000265715.7:c.2193_2194insA ENSP00000265715.3:p.Gln732ThrfsTer22
ENST00000492030.2:n.379_380insA
NM_000441.1:c.2193_2194insA NP_000432.1:p.Gln732ThrfsTer22
XM_005250425.1:c.2193_2194insA XP_005250482.1:p.Gln732ThrfsTer22
XM_005250425.2:c.2193_2194insA XP_005250482.1:p.Gln732ThrfsTer22
XM_017012318.1:c.2115_2116insA XP_016867807.1:p.Gln706ThrfsTer22
NM_000441.2:c.2193_2194insA MANE Select NP_000432.1:p.Gln732ThrfsTer22
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