Canonical Allele Identifier: CA343112223

Gene: SLC19A2

Linked Data

• MyVariant Identifiers: chr1:g.169485638del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485638del , CM000663.2:g.169485638del	GRCh38
NC_000001.10:g.169454876del , CM000663.1:g.169454876del	GRCh37
NC_000001.9:g.167721500del	NCBI36
NG_008255.1:g.5333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.129del MANE Select	ENSP00000236137.5:p.Phe43LeufsTer11
ENST00000646596.1:c.129del	ENSP00000494404.1:p.Phe43LeufsTer11
ENST00000236137.9:c.129del	ENSP00000236137.5:p.Phe43LeufsTer11
ENST00000367804.4:c.129del	ENSP00000356778.3:p.Phe43LeufsTer11
NM_006996.2:c.129del	NP_008927.1:p.Phe43LeufsTer11
XM_011509076.1:c.12+415del	XP_011507378.1:n.12+415del
XM_011509077.1:c.129del	XP_011507379.1:p.Phe43LeufsTer11
NM_001319667.1:c.129del	NP_001306596.1:p.Phe43LeufsTer11
NM_006996.3:c.129del MANE Select	NP_008927.1:p.Phe43LeufsTer11