Canonical Allele Identifier: CA2656281331

Gene: SLC5A1

Linked Data

• gnomAD v4: 22-32050064-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32050066_32050067del , CM000684.2:g.32050066_32050067del	GRCh38
NC_000022.10:g.32446053_32446054del , CM000684.1:g.32446053_32446054del	GRCh37
NC_000022.9:g.30776053_30776054del	NCBI36
NG_017045.1:g.12035_12036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.207+52_207+53del MANE Select	ENSP00000266088.4:n.207+52_207+53del
ENST00000266088.8:c.207+52_207+53del	ENSP00000266088.4:n.207+52_207+53del
NM_000343.3:c.207+52_207+53del	NP_000334.1:n.207+52_207+53del
XM_011530331.1:c.207+52_207+53del	XP_011528633.1:n.207+52_207+53del
NM_000343.4:c.207+52_207+53del MANE Select	NP_000334.1:n.207+52_207+53del