Canonical Allele Identifier: CA1732751435
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107694479_107694480delinsAG , CM000669.2:g.107694479_107694480delinsAG GRCh38
NC_000007.13:g.107334924_107334925delinsAG , CM000669.1:g.107334924_107334925delinsAG GRCh37
NC_000007.12:g.107122160_107122161delinsAG NCBI36
NG_008489.1:g.38845_38846delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1340_1341delinsAG MANE Select ENSP00000494017.1:p.Lys447=
ENST00000644846.1:c.51_52delinsAG
ENST00000265715.7:c.1340_1341delinsAG ENSP00000265715.3:p.Lys447=
ENST00000460748.1:n.443_444delinsAG
ENST00000477350.5:n.189-142_189-141delinsAG
ENST00000480841.5:n.189_190delinsAG
ENST00000497446.5:n.355_356delinsAG
NM_000441.1:c.1340_1341delinsAG NP_000432.1:p.Lys447=
XM_005250425.1:c.1340_1341delinsAG XP_005250482.1:p.Lys447=
XM_005250425.2:c.1340_1341delinsAG XP_005250482.1:p.Lys447=
XM_017012318.1:c.1264-142_1264-141delinsAG XP_016867807.1:n.1264-142_1264-141delinsAG
NM_000441.2:c.1340_1341delinsAG MANE Select NP_000432.1:p.Lys447=