Canonical Allele Identifier: CA2401804243

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104848_32104851delinsAGAG , CM000684.2:g.32104848_32104851delinsAGAG	GRCh38
NC_000022.10:g.32500835_32500838delinsAGAG , CM000684.1:g.32500835_32500838delinsAGAG	GRCh37
NC_000022.9:g.30830835_30830838delinsAGAG	NCBI36
NG_017045.1:g.66817_66820delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1728_1731delinsAGAG MANE Select	ENSP00000266088.4:p.Glu576=
ENST00000266088.8:c.1728_1731delinsAGAG	ENSP00000266088.4:p.Glu576=
ENST00000543737.2:c.1347_1350delinsAGAG	ENSP00000444898.1:p.Glu449=
NM_000343.3:c.1728_1731delinsAGAG	NP_000334.1:p.Glu576=
NM_001256314.1:c.1347_1350delinsAGAG	NP_001243243.1:p.Glu449=
XR_938173.1:n.591+1987_591+1990delinsCTCT
XR_938174.1:n.486+15004_486+15007delinsCTCT
NM_000343.4:c.1728_1731delinsAGAG MANE Select	NP_000334.1:p.Glu576=
NM_001256314.2:c.1347_1350delinsAGAG	NP_001243243.1:p.Glu449=