Canonical Allele Identifier: CA1590738552

Gene: SLC26A2

Linked Data

• dbSNP Id: rs1755085827

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980867_149980868insAACAGTGGAAGAAGGAAGGGATGA , CM000667.2:g.149980867_149980868insAACAGTGGAAGAAGGAAGGGATGA	GRCh38
NC_000005.9:g.149360430_149360431insAACAGTGGAAGAAGGAAGGGATGA , CM000667.1:g.149360430_149360431insAACAGTGGAAGAAGGAAGGGATGA	GRCh37
NC_000005.8:g.149340623_149340624insAACAGTGGAAGAAGGAAGGGATGA	NCBI36
NG_007147.2:g.21985_21986insAACAGTGGAAGAAGGAAGGGATGA , LRG_684:g.21985_21986insAACAGTGGAAGAAGGAAGGGATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.1274_1275insAACAGTGGAAGAAGGAAGGGATGA MANE Select	ENSP00000286298.4:p.Asn425delinsLysThrValGluGluGlyArgAspAsp
ENST00000286298.4:c.1274_1275insAACAGTGGAAGAAGGAAGGGATGA	ENSP00000286298.4:p.Asn425delinsLysThrValGluGluGlyArgAspAsp
ENST00000503336.1:c.372+2516_372+2517insAACAGTGGAAGAAGGAAGGGATGA	ENSP00000426053.1:n.372+2516_372+2517insAACAGTGGAAGAAGGAAGGGA...
NM_000112.3:c.1274_1275insAACAGTGGAAGAAGGAAGGGATGA , LRG_684t1:c.1274_1275insAACAGTGGAAGAAGGAAGGGATGA	NP_000103.2:p.Asn425delinsLysThrValGluGluGlyArgAspAsp
XM_017009191.2:c.1274_1275insAACAGTGGAAGAAGGAAGGGATGA	XP_016864680.1:p.Asn425delinsLysThrValGluGluGlyArgAspAsp
NM_000112.4:c.1274_1275insAACAGTGGAAGAAGGAAGGGATGA MANE Select	NP_000103.2:p.Asn425delinsLysThrValGluGluGlyArgAspAsp