Canonical Allele Identifier: CA1590737609

Gene: SLC26A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149978602_149978607delinsGAGATT , CM000667.2:g.149978602_149978607delinsGAGATT	GRCh38
NC_000005.9:g.149358165_149358170delinsGAGATT , CM000667.1:g.149358165_149358170delinsGAGATT	GRCh37
NC_000005.8:g.149338358_149338363delinsGAGATT	NCBI36
NG_007147.2:g.19720_19725delinsGAGATT , LRG_684:g.19720_19725delinsGAGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.1182_1187delinsGAGATT
ENST00000286298.5:c.699+251_699+256delinsGAGATT MANE Select	ENSP00000286298.4:n.699+251_699+256delinsGAGATT
ENST00000286298.4:c.699+251_699+256delinsGAGATT	ENSP00000286298.4:n.699+251_699+256delinsGAGATT
ENST00000503336.1:c.372+251_372+256delinsGAGATT	ENSP00000426053.1:n.372+251_372+256delinsGAGATT
NM_000112.3:c.699+251_699+256delinsGAGATT , LRG_684t1:c.699+251_699+256delinsGAGATT	NP_000103.2:n.699+251_699+256delinsGAGATT
XM_017009191.2:c.699+251_699+256delinsGAGATT	XP_016864680.1:n.699+251_699+256delinsGAGATT
NM_000112.4:c.699+251_699+256delinsGAGATT MANE Select	NP_000103.2:n.699+251_699+256delinsGAGATT