Canonical Allele Identifier: CA2392214919

Gene: SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45545998_45545999delinsCA , CM000683.2:g.45545998_45545999delinsCA	GRCh38
NC_000021.8:g.46965912_46965913delinsCA , CM000683.1:g.46965912_46965913delinsCA	GRCh37
NC_000021.7:g.45790340_45790341delinsCA	NCBI36
NG_028278.1:g.1473_1474delinsTG
NG_028278.2:g.22145_22146delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650808.1:c.-49-7991_-49-7990delinsTG	ENSP00000498221.1:n.-49-7991_-49-7990delinsTG
XM_011529697.1:c.-125-1374_-125-1373delinsTG	XP_011527999.1:n.-125-1374_-125-1373delinsTG
XM_011529700.1:c.-49-7991_-49-7990delinsTG	XP_011528002.1:n.-49-7991_-49-7990delinsTG
XM_011529705.1:c.-137-1362_-137-1361delinsTG	XP_011528007.1:n.-137-1362_-137-1361delinsTG
XM_011529707.1:c.-137-1362_-137-1361delinsTG	XP_011528009.1:n.-137-1362_-137-1361delinsTG
XM_011529709.1:c.-407-7991_-407-7990delinsTG	XP_011528011.1:n.-407-7991_-407-7990delinsTG
XM_011529710.1:c.-165-13851_-165-13850delinsTG	XP_011528012.1:n.-165-13851_-165-13850delinsTG
NM_001352511.1:c.-49-7991_-49-7990delinsTG	NP_001339440.1:n.-49-7991_-49-7990delinsTG
XM_011529700.2:c.-49-7991_-49-7990delinsTG	XP_011528002.1:n.-49-7991_-49-7990delinsTG
XM_011529709.2:c.-407-7991_-407-7990delinsTG	XP_011528011.1:n.-407-7991_-407-7990delinsTG
NM_001352511.2:c.-49-7991_-49-7990delinsTG	NP_001339440.1:n.-49-7991_-49-7990delinsTG
NM_001352511.3:c.-49-7991_-49-7990delinsTG	NP_001339440.1:n.-49-7991_-49-7990delinsTG