Canonical Allele Identifier: CA2392214123
Gene: SLC19A1 HGNC NCBI

Linked Data

dbSNP Id: rs2078391193

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45544401_45544409del , CM000683.2:g.45544401_45544409del GRCh38
NC_000021.8:g.46964315_46964323del , CM000683.1:g.46964315_46964323del GRCh37
NC_000021.7:g.45788743_45788751del NCBI36
NG_028278.1:g.3068_3076del
NG_028278.2:g.23740_23748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650808.1:c.-49-6396_-49-6388del ENSP00000498221.1:n.-49-6396_-49-6388del
ENST00000567670.5:c.-317_-309del ENSP00000457278.1:n.-317_-309del
XM_011529696.1:c.33-58_33-50del XP_011527998.1:n.33-58_33-50del
XM_011529697.1:c.33-58_33-50del XP_011527999.1:n.33-58_33-50del
XM_011529700.1:c.-49-6396_-49-6388del XP_011528002.1:n.-49-6396_-49-6388del
XM_011529705.1:c.33-58_33-50del XP_011528007.1:n.33-58_33-50del
XM_011529707.1:c.33-58_33-50del XP_011528009.1:n.33-58_33-50del
XM_011529708.1:c.-254-63_-254-55del XP_011528010.1:n.-254-63_-254-55del
XM_011529709.1:c.-407-6396_-407-6388del XP_011528011.1:n.-407-6396_-407-6388del
XM_011529710.1:c.-165-12256_-165-12248del XP_011528012.1:n.-165-12256_-165-12248del
NM_001352511.1:c.-49-6396_-49-6388del NP_001339440.1:n.-49-6396_-49-6388del
XM_011529696.2:c.33-58_33-50del XP_011527998.1:n.33-58_33-50del
XM_011529700.2:c.-49-6396_-49-6388del XP_011528002.1:n.-49-6396_-49-6388del
XM_011529709.2:c.-407-6396_-407-6388del XP_011528011.1:n.-407-6396_-407-6388del
XM_017028444.1:c.33-58_33-50del XP_016883933.1:n.33-58_33-50del
XM_017028445.2:c.33-58_33-50del XP_016883934.1:n.33-58_33-50del
NM_001352511.2:c.-49-6396_-49-6388del NP_001339440.1:n.-49-6396_-49-6388del
NM_001352511.3:c.-49-6396_-49-6388del NP_001339440.1:n.-49-6396_-49-6388del