Canonical Allele Identifier: CA1590738745
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981362_149981366delinsTAAAC , CM000667.2:g.149981362_149981366delinsTAAAC GRCh38
NC_000005.9:g.149360925_149360929delinsTAAAC , CM000667.1:g.149360925_149360929delinsTAAAC GRCh37
NC_000005.8:g.149341118_149341122delinsTAAAC NCBI36
NG_007147.2:g.22480_22484delinsTAAAC , LRG_684:g.22480_22484delinsTAAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1769_1773delinsTAAAC MANE Select ENSP00000286298.4:p.Ile590=
ENST00000286298.4:c.1769_1773delinsTAAAC ENSP00000286298.4:p.Ile590=
ENST00000503336.1:c.372+3011_372+3015delinsTAAAC ENSP00000426053.1:n.372+3011_372+3015delinsTAAAC
NM_000112.3:c.1769_1773delinsTAAAC , LRG_684t1:c.1769_1773delinsTAAAC NP_000103.2:p.Ile590=
XM_017009191.2:c.1769_1773delinsTAAAC XP_016864680.1:p.Ile590=
NM_000112.4:c.1769_1773delinsTAAAC MANE Select NP_000103.2:p.Ile590=