Canonical Allele Identifier: CA2645084128
Gene: MFSD2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39965570_39965579del , CM000663.2:g.39965570_39965579del GRCh38
NC_000001.10:g.40431242_40431251del , CM000663.1:g.40431242_40431251del GRCh37
NC_000001.9:g.40203829_40203838del NCBI36
NG_053084.1:g.15459_15468del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372811.10:c.556+21_556+30del MANE Select ENSP00000361898.6:n.556+21_556+30del
ENST00000372809.5:c.595+21_595+30del ENSP00000361895.5:n.595+21_595+30del
ENST00000372811.9:c.556+21_556+30del ENSP00000361898.5:n.556+21_556+30del
ENST00000420632.6:c.88+21_88+30del ENSP00000391261.2:n.88+21_88+30del
ENST00000434861.5:c.550+21_550+30del ENSP00000407606.1:n.550+21_550+30del
ENST00000469745.5:n.468+21_468+30del
ENST00000480630.5:n.1203+21_1203+30del
ENST00000483824.5:n.691+21_691+30del
NM_001136493.2:c.595+21_595+30del NP_001129965.1:n.595+21_595+30del
NM_001287808.1:c.88+21_88+30del NP_001274737.1:n.88+21_88+30del
NM_001287809.1:c.445+21_445+30del NP_001274738.1:n.445+21_445+30del
NM_032793.4:c.556+21_556+30del NP_116182.2:n.556+21_556+30del
NR_109896.1:n.737+21_737+30del
XM_005271285.1:c.550+21_550+30del XP_005271342.1:n.550+21_550+30del
XM_011542312.1:c.556+21_556+30del XP_011540614.1:n.556+21_556+30del
XR_946783.1:n.704+21_704+30del
NM_001349821.1:c.550+21_550+30del NP_001336750.1:n.550+21_550+30del
NM_001349822.1:c.556+21_556+30del NP_001336751.1:n.556+21_556+30del
NM_001349823.1:c.211+21_211+30del NP_001336752.1:n.211+21_211+30del
NM_001136493.3:c.595+21_595+30del NP_001129965.1:n.595+21_595+30del
NM_001287809.2:c.445+21_445+30del NP_001274738.1:n.445+21_445+30del
NM_001349821.2:c.550+21_550+30del NP_001336750.1:n.550+21_550+30del
NM_001349822.2:c.556+21_556+30del NP_001336751.1:n.556+21_556+30del
NM_001349823.2:c.211+21_211+30del NP_001336752.1:n.211+21_211+30del
NM_032793.5:c.556+21_556+30del MANE Select NP_116182.2:n.556+21_556+30del
NR_109896.2:n.704+21_704+30del
NM_001287808.2:c.88+21_88+30del NP_001274737.1:n.88+21_88+30del