Canonical Allele Identifier: CA2401804252

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104861_32104864delinsCAAG , CM000684.2:g.32104861_32104864delinsCAAG	GRCh38
NC_000022.10:g.32500848_32500851delinsCAAG , CM000684.1:g.32500848_32500851delinsCAAG	GRCh37
NC_000022.9:g.30830848_30830851delinsCAAG	NCBI36
NG_017045.1:g.66830_66833delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1741_1744delinsCAAG MANE Select	ENSP00000266088.4:p.Gln581=
ENST00000266088.8:c.1741_1744delinsCAAG	ENSP00000266088.4:p.Gln581=
ENST00000543737.2:c.1360_1363delinsCAAG	ENSP00000444898.1:p.Gln454=
NM_000343.3:c.1741_1744delinsCAAG	NP_000334.1:p.Gln581=
NM_001256314.1:c.1360_1363delinsCAAG	NP_001243243.1:p.Gln454=
XR_938173.1:n.591+1974_591+1977delinsCTTG
XR_938174.1:n.486+14991_486+14994delinsCTTG
NM_000343.4:c.1741_1744delinsCAAG MANE Select	NP_000334.1:p.Gln581=
NM_001256314.2:c.1360_1363delinsCAAG	NP_001243243.1:p.Gln454=