Canonical Allele Identifier: CA2578989091
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107696050_107696053del , CM000669.2:g.107696050_107696053del GRCh38
NC_000007.13:g.107336495_107336498del , CM000669.1:g.107336495_107336498del GRCh37
NC_000007.12:g.107123731_107123734del NCBI36
NG_008489.1:g.40416_40419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1544+11_1544+14del MANE Select ENSP00000494017.1:n.1544+11_1544+14del
ENST00000644846.1:c.255+11_255+14del
ENST00000265715.7:c.1544+11_1544+14del ENSP00000265715.3:n.1544+11_1544+14del
ENST00000477350.5:n.391+11_391+14del
ENST00000480841.5:n.393+11_393+14del
NM_000441.1:c.1544+11_1544+14del NP_000432.1:n.1544+11_1544+14del
XM_005250425.1:c.1544+11_1544+14del XP_005250482.1:n.1544+11_1544+14del
XM_005250425.2:c.1544+11_1544+14del XP_005250482.1:n.1544+11_1544+14del
XM_017012318.1:c.1466+11_1466+14del XP_016867807.1:n.1466+11_1466+14del
NM_000441.2:c.1544+11_1544+14del MANE Select NP_000432.1:n.1544+11_1544+14del