Canonical Allele Identifier: CA2578989088

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695994_107695995del , CM000669.2:g.107695994_107695995del	GRCh38
NC_000007.13:g.107336439_107336440del , CM000669.1:g.107336439_107336440del	GRCh37
NC_000007.12:g.107123675_107123676del	NCBI36
NG_008489.1:g.40360_40361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1499_1500del MANE Select	ENSP00000494017.1:p.Ala500GlyfsTer26
ENST00000644846.1:c.210_211del
ENST00000265715.7:c.1499_1500del	ENSP00000265715.3:p.Ala500GlyfsTer26
ENST00000477350.5:n.346_347del
ENST00000480841.5:n.348_349del
ENST00000497446.5:n.514_515del
NM_000441.1:c.1499_1500del	NP_000432.1:p.Ala500GlyfsTer26
XM_005250425.1:c.1499_1500del	XP_005250482.1:p.Ala500GlyfsTer26
XM_005250425.2:c.1499_1500del	XP_005250482.1:p.Ala500GlyfsTer26
XM_017012318.1:c.1421_1422del	XP_016867807.1:p.Ala474GlyfsTer26
NM_000441.2:c.1499_1500del MANE Select	NP_000432.1:p.Ala500GlyfsTer26