Canonical Allele Identifier: CA2695208261

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701131_107701132del , CM000669.2:g.107701131_107701132del	GRCh38
NC_000007.13:g.107341576_107341577del , CM000669.1:g.107341576_107341577del	GRCh37
NC_000007.12:g.107128812_107128813del	NCBI36
NG_008489.1:g.45497_45498del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1738_1739del MANE Select	ENSP00000494017.1:p.Lys580GlufsTer27
ENST00000644846.1:c.449_450del
ENST00000265715.7:c.1738_1739del	ENSP00000265715.3:p.Lys580GlufsTer27
ENST00000480841.5:n.587_588del
ENST00000492030.2:n.91-696_91-695del
NM_000441.1:c.1738_1739del	NP_000432.1:p.Lys580GlufsTer27
XM_005250425.1:c.1738_1739del	XP_005250482.1:p.Lys580GlufsTer27
XM_005250425.2:c.1738_1739del	XP_005250482.1:p.Lys580GlufsTer27
XM_017012318.1:c.1660_1661del	XP_016867807.1:p.Lys554GlufsTer27
NM_000441.2:c.1738_1739del MANE Select	NP_000432.1:p.Lys580GlufsTer27