Canonical Allele Identifier: CA645602296

Gene: SLC5A5

Linked Data

• COSMIC: COSM5855032

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17890930del , CM000681.2:g.17890930del	GRCh38
NC_000019.9:g.18001739del , CM000681.1:g.18001739del	GRCh37
NC_000019.8:g.17862739del	NCBI36
NG_012930.1:g.23958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1696del MANE Select	ENSP00000222248.2:p.Asp566ThrfsTer?
ENST00000222248.3:c.1696del	ENSP00000222248.2:p.Asp566ThrfsTer?
NM_000453.2:c.1696del	NP_000444.1:p.Asp566ThrfsTer?
XM_011528192.1:c.1729del	XP_011526494.1:p.Asp577ThrfsTer?
XM_011528193.1:c.1462del	XP_011526495.1:p.Asp488ThrfsTer?
XM_011528194.1:c.1363del	XP_011526496.1:p.Asp455ThrfsTer?
XM_011528192.2:c.1729del	XP_011526494.1:p.Asp577ThrfsTer?
XM_011528193.3:c.1462del	XP_011526495.1:p.Asp488ThrfsTer?
XM_011528194.3:c.1363del	XP_011526496.1:p.Asp455ThrfsTer?
XM_017027158.1:c.1429del	XP_016882647.1:p.Asp477ThrfsTer?
NM_000453.3:c.1696del MANE Select	NP_000444.1:p.Asp566ThrfsTer?