Canonical Allele Identifier: CA2401780510

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32049823_32049825delinsGAA , CM000684.2:g.32049823_32049825delinsGAA	GRCh38
NC_000022.10:g.32445810_32445812delinsGAA , CM000684.1:g.32445810_32445812delinsGAA	GRCh37
NC_000022.9:g.30775810_30775812delinsGAA	NCBI36
NG_017045.1:g.11792_11794delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.136-120_136-118delinsGAA MANE Select	ENSP00000266088.4:n.136-120_136-118delinsGAA
ENST00000266088.8:c.136-120_136-118delinsGAA	ENSP00000266088.4:n.136-120_136-118delinsGAA
NM_000343.3:c.136-120_136-118delinsGAA	NP_000334.1:n.136-120_136-118delinsGAA
XM_011530331.1:c.136-120_136-118delinsGAA	XP_011528633.1:n.136-120_136-118delinsGAA
NM_000343.4:c.136-120_136-118delinsGAA MANE Select	NP_000334.1:n.136-120_136-118delinsGAA