Canonical Allele Identifier: CA323398511

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32067356_32067357insAT , CM000684.2:g.32067356_32067357insAT	GRCh38
NC_000022.10:g.32463343_32463344insAT , CM000684.1:g.32463343_32463344insAT	GRCh37
NC_000022.9:g.30793343_30793344insAT	NCBI36
NG_017045.1:g.29325_29326insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.312+317_312+318insAT MANE Select	ENSP00000266088.4:n.312+317_312+318insAT
ENST00000266088.8:c.312+317_312+318insAT	ENSP00000266088.4:n.312+317_312+318insAT
ENST00000543737.2:c.-70+317_-70+318insAT	ENSP00000444898.1:n.-70+317_-70+318insAT
NM_000343.3:c.312+317_312+318insAT	NP_000334.1:n.312+317_312+318insAT
NM_001256314.1:c.-70+317_-70+318insAT	NP_001243243.1:n.-70+317_-70+318insAT
XM_011530331.1:c.312+317_312+318insAT	XP_011528633.1:n.312+317_312+318insAT
NM_000343.4:c.312+317_312+318insAT MANE Select	NP_000334.1:n.312+317_312+318insAT
NM_001256314.2:c.-70+317_-70+318insAT	NP_001243243.1:n.-70+317_-70+318insAT