Canonical Allele Identifier: CA2695208256

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107698091_107698092delinsT , CM000669.2:g.107698091_107698092delinsT	GRCh38
NC_000007.13:g.107338536_107338537delinsT , CM000669.1:g.107338536_107338537delinsT	GRCh37
NC_000007.12:g.107125772_107125773delinsT	NCBI36
NG_008489.1:g.42457_42458delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1594_1595delinsT MANE Select	ENSP00000494017.1:p.Ser532LeufsTer14
ENST00000644846.1:c.305_306delinsT
ENST00000265715.7:c.1594_1595delinsT	ENSP00000265715.3:p.Ser532LeufsTer14
ENST00000477350.5:n.441_442delinsT
ENST00000480841.5:n.443_444delinsT
NM_000441.1:c.1594_1595delinsT	NP_000432.1:p.Ser532LeufsTer14
XM_005250425.1:c.1594_1595delinsT	XP_005250482.1:p.Ser532LeufsTer14
XM_005250425.2:c.1594_1595delinsT	XP_005250482.1:p.Ser532LeufsTer14
XM_017012318.1:c.1516_1517delinsT	XP_016867807.1:p.Ser506LeufsTer14
NM_000441.2:c.1594_1595delinsT MANE Select	NP_000432.1:p.Ser532LeufsTer14