Canonical Allele Identifier: CA2576718299

Gene: SLC5A5

Linked Data

• gnomAD v4: 19-17891046-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17891049del , CM000681.2:g.17891049del	GRCh38
NC_000019.9:g.18001858del , CM000681.1:g.18001858del	GRCh37
NC_000019.8:g.17862858del	NCBI36
NG_012930.1:g.24077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1767+48del MANE Select	ENSP00000222248.2:n.1767+48del
ENST00000222248.3:c.1767+48del	ENSP00000222248.2:n.1767+48del
NM_000453.2:c.1767+48del	NP_000444.1:n.1767+48del
XM_011528192.1:c.1800+48del	XP_011526494.1:n.1800+48del
XM_011528193.1:c.1533+48del	XP_011526495.1:n.1533+48del
XM_011528194.1:c.1434+48del	XP_011526496.1:n.1434+48del
XM_011528192.2:c.1800+48del	XP_011526494.1:n.1800+48del
XM_011528193.3:c.1533+48del	XP_011526495.1:n.1533+48del
XM_011528194.3:c.1434+48del	XP_011526496.1:n.1434+48del
XM_017027158.1:c.1500+48del	XP_016882647.1:n.1500+48del
NM_000453.3:c.1767+48del MANE Select	NP_000444.1:n.1767+48del