Canonical Allele Identifier: CA2576718339

Gene: SLC5A5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17893949del , CM000681.2:g.17893949del	GRCh38
NC_000019.9:g.18004758del , CM000681.1:g.18004758del	GRCh37
NC_000019.8:g.17865758del	NCBI36
NG_012930.1:g.26977del

Transcript Alleles

HGVS	Amino-acid change
ENST00000222248.4:c.*72del MANE Select	ENSP00000222248.2:n.*72del
ENST00000222248.3:c.*72del	ENSP00000222248.2:n.*72del
NM_000453.2:c.*72del	NP_000444.1:n.*72del
XM_011528192.1:c.*72del	XP_011526494.1:n.*72del
XM_011528193.1:c.*72del	XP_011526495.1:n.*72del
XM_011528194.1:c.*72del	XP_011526496.1:n.*72del
XM_011528192.2:c.*72del	XP_011526494.1:n.*72del
XM_011528193.3:c.*72del	XP_011526495.1:n.*72del
XM_011528194.3:c.*72del	XP_011526496.1:n.*72del
XM_017027158.1:c.*72del	XP_016882647.1:n.*72del
NM_000453.3:c.*72del MANE Select	NP_000444.1:n.*72del