Canonical Allele Identifier: CA1590738556

Gene: SLC26A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980874_149980878delinsCCCTT , CM000667.2:g.149980874_149980878delinsCCCTT	GRCh38
NC_000005.9:g.149360437_149360441delinsCCCTT , CM000667.1:g.149360437_149360441delinsCCCTT	GRCh37
NC_000005.8:g.149340630_149340634delinsCCCTT	NCBI36
NG_007147.2:g.21992_21996delinsCCCTT , LRG_684:g.21992_21996delinsCCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.1281_1285delinsCCCTT MANE Select	ENSP00000286298.4:p.Ile427=
ENST00000286298.4:c.1281_1285delinsCCCTT	ENSP00000286298.4:p.Ile427=
ENST00000503336.1:c.372+2523_372+2527delinsCCCTT	ENSP00000426053.1:n.372+2523_372+2527delinsCCCTT
NM_000112.3:c.1281_1285delinsCCCTT , LRG_684t1:c.1281_1285delinsCCCTT	NP_000103.2:p.Ile427=
XM_017009191.2:c.1281_1285delinsCCCTT	XP_016864680.1:p.Ile427=
NM_000112.4:c.1281_1285delinsCCCTT MANE Select	NP_000103.2:p.Ile427=