Canonical Allele Identifier: CA2401804072

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104493_32104495delinsTCA , CM000684.2:g.32104493_32104495delinsTCA	GRCh38
NC_000022.10:g.32500480_32500482delinsTCA , CM000684.1:g.32500480_32500482delinsTCA	GRCh37
NC_000022.9:g.30830480_30830482delinsTCA	NCBI36
NG_017045.1:g.66462_66464delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1666-293_1666-291delinsTCA MANE Select	ENSP00000266088.4:n.1666-293_1666-291delinsTCA
ENST00000266088.8:c.1666-293_1666-291delinsTCA	ENSP00000266088.4:n.1666-293_1666-291delinsTCA
ENST00000543737.2:c.1285-293_1285-291delinsTCA	ENSP00000444898.1:n.1285-293_1285-291delinsTCA
NM_000343.3:c.1666-293_1666-291delinsTCA	NP_000334.1:n.1666-293_1666-291delinsTCA
NM_001256314.1:c.1285-293_1285-291delinsTCA	NP_001243243.1:n.1285-293_1285-291delinsTCA
XR_938173.1:n.591+2343_591+2345delinsTGA
XR_938174.1:n.486+15360_486+15362delinsTGA
NM_000343.4:c.1666-293_1666-291delinsTCA MANE Select	NP_000334.1:n.1666-293_1666-291delinsTCA
NM_001256314.2:c.1285-293_1285-291delinsTCA	NP_001243243.1:n.1285-293_1285-291delinsTCA