Canonical Allele Identifier: CA2392214923

Gene: SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45546007_45546010delinsACCT , CM000683.2:g.45546007_45546010delinsACCT	GRCh38
NC_000021.8:g.46965921_46965924delinsACCT , CM000683.1:g.46965921_46965924delinsACCT	GRCh37
NC_000021.7:g.45790349_45790352delinsACCT	NCBI36
NG_028278.1:g.1462_1465delinsAGGT
NG_028278.2:g.22134_22137delinsAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650808.1:c.-49-8002_-49-7999delinsAGGT	ENSP00000498221.1:n.-49-8002_-49-7999delinsAGGT
XM_011529697.1:c.-125-1385_-125-1382delinsAGGT	XP_011527999.1:n.-125-1385_-125-1382delinsAGGT
XM_011529700.1:c.-49-8002_-49-7999delinsAGGT	XP_011528002.1:n.-49-8002_-49-7999delinsAGGT
XM_011529705.1:c.-137-1373_-137-1370delinsAGGT	XP_011528007.1:n.-137-1373_-137-1370delinsAGGT
XM_011529707.1:c.-137-1373_-137-1370delinsAGGT	XP_011528009.1:n.-137-1373_-137-1370delinsAGGT
XM_011529709.1:c.-407-8002_-407-7999delinsAGGT	XP_011528011.1:n.-407-8002_-407-7999delinsAGGT
XM_011529710.1:c.-165-13862_-165-13859delinsAGGT	XP_011528012.1:n.-165-13862_-165-13859delinsAGGT
NM_001352511.1:c.-49-8002_-49-7999delinsAGGT	NP_001339440.1:n.-49-8002_-49-7999delinsAGGT
XM_011529700.2:c.-49-8002_-49-7999delinsAGGT	XP_011528002.1:n.-49-8002_-49-7999delinsAGGT
XM_011529709.2:c.-407-8002_-407-7999delinsAGGT	XP_011528011.1:n.-407-8002_-407-7999delinsAGGT
NM_001352511.2:c.-49-8002_-49-7999delinsAGGT	NP_001339440.1:n.-49-8002_-49-7999delinsAGGT
NM_001352511.3:c.-49-8002_-49-7999delinsAGGT	NP_001339440.1:n.-49-8002_-49-7999delinsAGGT