Canonical Allele Identifier: CA2392198015

Gene: SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45514854_45514857delinsGCCC , CM000683.2:g.45514854_45514857delinsGCCC	GRCh38
NC_000021.8:g.46934768_46934771delinsGCCC , CM000683.1:g.46934768_46934771delinsGCCC	GRCh37
NC_000021.7:g.45759196_45759199delinsGCCC	NCBI36
NG_011903.1:g.114663_114666delinsGCCC
NG_028278.1:g.32615_32618delinsGGGC
NG_028278.2:g.53287_53290delinsGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311124.9:c.*801_*804delinsGGGC MANE Select	ENSP00000308895.4:n.*801_*804delinsGGGC
ENST00000650808.1:c.*119_*122delinsGGGC	ENSP00000498221.1:n.*119_*122delinsGGGC
ENST00000311124.8:c.*801_*804delinsGGGC	ENSP00000308895.4:n.*801_*804delinsGGGC
ENST00000380010.8:c.*119_*122delinsGGGC	ENSP00000369347.4:n.*119_*122delinsGGGC
ENST00000417954.5:c.497+10960_497+10963delinsGGGC
ENST00000460174.1:n.386+39_386+42delinsGGGC
ENST00000468508.1:n.238+39_238+42delinsGGGC
ENST00000567670.5:c.1293+10960_1293+10963delinsGGGC	ENSP00000457278.1:n.1293+10960_1293+10963delinsGGGC
NM_001205206.1:c.*119_*122delinsGGGC	NP_001192135.1:n.*119_*122delinsGGGC
NM_001205207.1:c.*801_*804delinsGGGC	NP_001192136.1:n.*801_*804delinsGGGC
NM_194255.2:c.*801_*804delinsGGGC	NP_919231.1:n.*801_*804delinsGGGC
XM_005261164.2:c.*801_*804delinsGGGC	XP_005261221.1:n.*801_*804delinsGGGC
XM_011529696.1:c.*801_*804delinsGGGC	XP_011527998.1:n.*801_*804delinsGGGC
XM_011529697.1:c.*801_*804delinsGGGC	XP_011527999.1:n.*801_*804delinsGGGC
XM_011529698.1:c.*801_*804delinsGGGC	XP_011528000.1:n.*801_*804delinsGGGC
XM_011529699.1:c.*801_*804delinsGGGC	XP_011528001.1:n.*801_*804delinsGGGC
XM_011529700.1:c.*801_*804delinsGGGC	XP_011528002.1:n.*801_*804delinsGGGC
XM_011529701.1:c.*801_*804delinsGGGC	XP_011528003.1:n.*801_*804delinsGGGC
XM_011529702.1:c.*801_*804delinsGGGC	XP_011528004.1:n.*801_*804delinsGGGC
XM_011529703.1:c.*801_*804delinsGGGC	XP_011528005.1:n.*801_*804delinsGGGC
XM_011529704.1:c.*801_*804delinsGGGC	XP_011528006.1:n.*801_*804delinsGGGC
XM_011529705.1:c.*119_*122delinsGGGC	XP_011528007.1:n.*119_*122delinsGGGC
XM_011529706.1:c.*801_*804delinsGGGC	XP_011528008.1:n.*801_*804delinsGGGC
XM_011529707.1:c.1584+10960_1584+10963delinsGGGC	XP_011528009.1:n.1584+10960_1584+10963delinsGGGC
XM_011529708.1:c.*801_*804delinsGGGC	XP_011528010.1:n.*801_*804delinsGGGC
XM_011529709.1:c.*801_*804delinsGGGC	XP_011528011.1:n.*801_*804delinsGGGC
XM_011529710.1:c.*801_*804delinsGGGC	XP_011528012.1:n.*801_*804delinsGGGC
NM_001205206.2:c.*119_*122delinsGGGC	NP_001192135.1:n.*119_*122delinsGGGC
NM_001205207.2:c.*801_*804delinsGGGC	NP_001192136.1:n.*801_*804delinsGGGC
NM_001352510.1:c.*801_*804delinsGGGC	NP_001339439.1:n.*801_*804delinsGGGC
NM_001352511.1:c.*119_*122delinsGGGC	NP_001339440.1:n.*119_*122delinsGGGC
NM_001352512.1:c.*801_*804delinsGGGC	NP_001339441.1:n.*801_*804delinsGGGC
NM_194255.3:c.*801_*804delinsGGGC	NP_919231.1:n.*801_*804delinsGGGC
XM_011529696.2:c.*801_*804delinsGGGC	XP_011527998.1:n.*801_*804delinsGGGC
XM_011529698.2:c.*801_*804delinsGGGC	XP_011528000.1:n.*801_*804delinsGGGC
XM_011529700.2:c.*801_*804delinsGGGC	XP_011528002.1:n.*801_*804delinsGGGC
XM_011529701.2:c.*801_*804delinsGGGC	XP_011528003.1:n.*801_*804delinsGGGC
XM_011529702.2:c.*801_*804delinsGGGC	XP_011528004.1:n.*801_*804delinsGGGC
XM_011529703.2:c.*801_*804delinsGGGC	XP_011528005.1:n.*801_*804delinsGGGC
XM_011529706.3:c.*801_*804delinsGGGC	XP_011528008.1:n.*801_*804delinsGGGC
XM_011529709.2:c.*801_*804delinsGGGC	XP_011528011.1:n.*801_*804delinsGGGC
XM_017028443.1:c.*801_*804delinsGGGC	XP_016883932.1:n.*801_*804delinsGGGC
XM_017028444.1:c.*119_*122delinsGGGC	XP_016883933.1:n.*119_*122delinsGGGC
XM_017028445.2:c.1584+10960_1584+10963delinsGGGC	XP_016883934.1:n.1584+10960_1584+10963delinsGGGC
NM_194255.4:c.*801_*804delinsGGGC MANE Select	NP_919231.1:n.*801_*804delinsGGGC
NM_001205206.3:c.*119_*122delinsGGGC	NP_001192135.1:n.*119_*122delinsGGGC
NM_001205207.3:c.*801_*804delinsGGGC	NP_001192136.1:n.*801_*804delinsGGGC
NM_001352510.2:c.*801_*804delinsGGGC	NP_001339439.1:n.*801_*804delinsGGGC
NM_001352511.2:c.*119_*122delinsGGGC	NP_001339440.1:n.*119_*122delinsGGGC
NM_001352512.2:c.*801_*804delinsGGGC	NP_001339441.1:n.*801_*804delinsGGGC
NM_001205206.4:c.*119_*122delinsGGGC	NP_001192135.1:n.*119_*122delinsGGGC
NM_001352511.3:c.*119_*122delinsGGGC	NP_001339440.1:n.*119_*122delinsGGGC