Canonical Allele Identifier: CA1732751423
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107694477_107694478delinsGA , CM000669.2:g.107694477_107694478delinsGA GRCh38
NC_000007.13:g.107334922_107334923delinsGA , CM000669.1:g.107334922_107334923delinsGA GRCh37
NC_000007.12:g.107122158_107122159delinsGA NCBI36
NG_008489.1:g.38843_38844delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1338_1339delinsGA MANE Select ENSP00000494017.1:p.Gln446=
ENST00000644846.1:c.49_50delinsGA
ENST00000265715.7:c.1338_1339delinsGA ENSP00000265715.3:p.Gln446=
ENST00000460748.1:n.441_442delinsGA
ENST00000477350.5:n.189-144_189-143delinsGA
ENST00000480841.5:n.187_188delinsGA
ENST00000497446.5:n.353_354delinsGA
NM_000441.1:c.1338_1339delinsGA NP_000432.1:p.Gln446=
XM_005250425.1:c.1338_1339delinsGA XP_005250482.1:p.Gln446=
XM_005250425.2:c.1338_1339delinsGA XP_005250482.1:p.Gln446=
XM_017012318.1:c.1264-144_1264-143delinsGA XP_016867807.1:n.1264-144_1264-143delinsGA
NM_000441.2:c.1338_1339delinsGA MANE Select NP_000432.1:p.Gln446=