Canonical Allele Identifier: CA1732753151

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107696013_107696014delinsGT , CM000669.2:g.107696013_107696014delinsGT	GRCh38
NC_000007.13:g.107336458_107336459delinsGT , CM000669.1:g.107336458_107336459delinsGT	GRCh37
NC_000007.12:g.107123694_107123695delinsGT	NCBI36
NG_008489.1:g.40379_40380delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1518_1519delinsGT MANE Select	ENSP00000494017.1:p.Leu506=
ENST00000644846.1:c.229_230delinsGT
ENST00000265715.7:c.1518_1519delinsGT	ENSP00000265715.3:p.Leu506=
ENST00000477350.5:n.365_366delinsGT
ENST00000480841.5:n.367_368delinsGT
ENST00000497446.5:n.533_534delinsGT
NM_000441.1:c.1518_1519delinsGT	NP_000432.1:p.Leu506=
XM_005250425.1:c.1518_1519delinsGT	XP_005250482.1:p.Leu506=
XM_005250425.2:c.1518_1519delinsGT	XP_005250482.1:p.Leu506=
XM_017012318.1:c.1440_1441delinsGT	XP_016867807.1:p.Leu480=
NM_000441.2:c.1518_1519delinsGT MANE Select	NP_000432.1:p.Leu506=