Canonical Allele Identifier: CA1206117384

Gene: SLC19A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485719_169485728delinsGGCCGCCGCC , CM000663.2:g.169485719_169485728delinsGGCCGCCGCC	GRCh38
NC_000001.10:g.169454957_169454966delinsGGCCGCCGCC , CM000663.1:g.169454957_169454966delinsGGCCGCCGCC	GRCh37
NC_000001.9:g.167721581_167721590delinsGGCCGCCGCC	NCBI36
NG_008255.1:g.5243_5252delinsGGCGGCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.39_48delinsGGCGGCGGCC MANE Select	ENSP00000236137.5:p.Ala13=
ENST00000646596.1:c.39_48delinsGGCGGCGGCC	ENSP00000494404.1:p.Ala13=
ENST00000236137.9:c.39_48delinsGGCGGCGGCC	ENSP00000236137.5:p.Ala13=
ENST00000367804.4:c.39_48delinsGGCGGCGGCC	ENSP00000356778.3:p.Ala13=
NM_006996.2:c.39_48delinsGGCGGCGGCC	NP_008927.1:p.Ala13=
XM_011509076.1:c.12+325_12+334delinsGGCGGCGGCC	XP_011507378.1:n.12+325_12+334delinsGGCGGCGGCC
XM_011509077.1:c.39_48delinsGGCGGCGGCC	XP_011507379.1:p.Ala13=
NM_001319667.1:c.39_48delinsGGCGGCGGCC	NP_001306596.1:p.Ala13=
NM_006996.3:c.39_48delinsGGCGGCGGCC MANE Select	NP_008927.1:p.Ala13=