Canonical Allele Identifier: CA1870132672
Gene: SLC44A1 HGNC NCBI

Linked Data

dbSNP Id: rs1830325917

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105280560_105280562del , CM000671.2:g.105280560_105280562del GRCh38
NC_000009.11:g.108042841_108042843del , CM000671.1:g.108042841_108042843del GRCh37
NC_000009.10:g.107082662_107082664del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000699289.1:c.37-18660_37-18658del ENSP00000514270.1:n.37-18660_37-18658del
ENST00000699290.1:c.37-18660_37-18658del ENSP00000514271.1:n.37-18660_37-18658del
ENST00000374720.8:c.37-18660_37-18658del MANE Select ENSP00000363852.3:n.37-18660_37-18658del
ENST00000374720.7:c.37-18660_37-18658del ENSP00000363852.3:n.37-18660_37-18658del
ENST00000374723.5:c.37-18660_37-18658del ENSP00000363855.1:n.37-18660_37-18658del
ENST00000374724.1:c.37-18660_37-18658del ENSP00000363856.1:n.37-18660_37-18658del
ENST00000470972.5:c.37-18660_37-18658del ENSP00000433072.1:n.37-18660_37-18658del
NM_001286730.1:c.37-18660_37-18658del NP_001273659.1:n.37-18660_37-18658del
NM_080546.4:c.37-18660_37-18658del NP_536856.2:n.37-18660_37-18658del
XM_005251855.3:c.37-18660_37-18658del XP_005251912.1:n.37-18660_37-18658del
XM_006717027.2:c.90+6927_90+6929del XP_006717090.1:n.90+6927_90+6929del
XM_006717028.2:c.90+6927_90+6929del XP_006717091.1:n.90+6927_90+6929del
XM_006717029.2:c.90+6927_90+6929del XP_006717092.1:n.90+6927_90+6929del
NM_001330731.1:c.37-18660_37-18658del NP_001317660.1:n.37-18660_37-18658del
XM_005251855.4:c.37-18660_37-18658del XP_005251912.1:n.37-18660_37-18658del
XM_006717027.3:c.90+6927_90+6929del XP_006717090.1:n.90+6927_90+6929del
XM_006717028.3:c.90+6927_90+6929del XP_006717091.1:n.90+6927_90+6929del
XM_006717029.3:c.90+6927_90+6929del XP_006717092.1:n.90+6927_90+6929del
XM_017014560.2:c.-258-18660_-258-18658del XP_016870049.1:n.-258-18660_-258-18658del...
NM_080546.5:c.37-18660_37-18658del MANE Select NP_536856.2:n.37-18660_37-18658del
NM_001286730.2:c.37-18660_37-18658del NP_001273659.1:n.37-18660_37-18658del
NM_001330731.2:c.37-18660_37-18658del NP_001317660.1:n.37-18660_37-18658del