Canonical Allele Identifier: CA1164196474
Gene: MFSD2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39965580_39965581delinsCT , CM000663.2:g.39965580_39965581delinsCT GRCh38
NC_000001.10:g.40431252_40431253delinsCT , CM000663.1:g.40431252_40431253delinsCT GRCh37
NC_000001.9:g.40203839_40203840delinsCT NCBI36
NG_053084.1:g.15469_15470delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372811.10:c.556+31_556+32delinsCT MANE Select ENSP00000361898.6:n.556+31_556+32delinsCT
ENST00000372809.5:c.595+31_595+32delinsCT ENSP00000361895.5:n.595+31_595+32delinsCT
ENST00000372811.9:c.556+31_556+32delinsCT ENSP00000361898.5:n.556+31_556+32delinsCT
ENST00000420632.6:c.88+31_88+32delinsCT ENSP00000391261.2:n.88+31_88+32delinsCT
ENST00000434861.5:c.550+31_550+32delinsCT ENSP00000407606.1:n.550+31_550+32delinsCT
ENST00000469745.5:n.468+31_468+32delinsCT
ENST00000480630.5:n.1203+31_1203+32delinsCT
ENST00000483824.5:n.691+31_691+32delinsCT
NM_001136493.2:c.595+31_595+32delinsCT NP_001129965.1:n.595+31_595+32delinsCT
NM_001287808.1:c.88+31_88+32delinsCT NP_001274737.1:n.88+31_88+32delinsCT
NM_001287809.1:c.445+31_445+32delinsCT NP_001274738.1:n.445+31_445+32delinsCT
NM_032793.4:c.556+31_556+32delinsCT NP_116182.2:n.556+31_556+32delinsCT
NR_109896.1:n.737+31_737+32delinsCT
XM_005271285.1:c.550+31_550+32delinsCT XP_005271342.1:n.550+31_550+32delinsCT
XM_011542312.1:c.556+31_556+32delinsCT XP_011540614.1:n.556+31_556+32delinsCT
XR_946783.1:n.704+31_704+32delinsCT
NM_001349821.1:c.550+31_550+32delinsCT NP_001336750.1:n.550+31_550+32delinsCT
NM_001349822.1:c.556+31_556+32delinsCT NP_001336751.1:n.556+31_556+32delinsCT
NM_001349823.1:c.211+31_211+32delinsCT NP_001336752.1:n.211+31_211+32delinsCT
NM_001136493.3:c.595+31_595+32delinsCT NP_001129965.1:n.595+31_595+32delinsCT
NM_001287809.2:c.445+31_445+32delinsCT NP_001274738.1:n.445+31_445+32delinsCT
NM_001349821.2:c.550+31_550+32delinsCT NP_001336750.1:n.550+31_550+32delinsCT
NM_001349822.2:c.556+31_556+32delinsCT NP_001336751.1:n.556+31_556+32delinsCT
NM_001349823.2:c.211+31_211+32delinsCT NP_001336752.1:n.211+31_211+32delinsCT
NM_032793.5:c.556+31_556+32delinsCT MANE Select NP_116182.2:n.556+31_556+32delinsCT
NR_109896.2:n.704+31_704+32delinsCT
NM_001287808.2:c.88+31_88+32delinsCT NP_001274737.1:n.88+31_88+32delinsCT