Canonical Allele Identifier: CA1164196424

Gene: MFSD2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965560_39965592delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT , CM000663.2:g.39965560_39965592delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	GRCh38
NC_000001.10:g.40431232_40431264delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT , CM000663.1:g.40431232_40431264delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	GRCh37
NC_000001.9:g.40203819_40203851delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NCBI36
NG_053084.1:g.15449_15481delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT MANE Select	ENSP00000361898.6:n.556+11_556+43delinsCCAGCCCACCTGACCCCACCCT...
ENST00000372809.5:c.595+11_595+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	ENSP00000361895.5:n.595+11_595+43delinsCCAGCCCACCTGACCCCACCCT...
ENST00000372811.9:c.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	ENSP00000361898.5:n.556+11_556+43delinsCCAGCCCACCTGACCCCACCCT...
ENST00000420632.6:c.88+11_88+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	ENSP00000391261.2:n.88+11_88+43delinsCCAGCCCACCTGACCCCACCCTCC...
ENST00000434861.5:c.550+11_550+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	ENSP00000407606.1:n.550+11_550+43delinsCCAGCCCACCTGACCCCACCCT...
ENST00000469745.5:n.468+11_468+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT
ENST00000480630.5:n.1203+11_1203+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT
ENST00000483824.5:n.691+11_691+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT
NM_001136493.2:c.595+11_595+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001129965.1:n.595+11_595+43delinsCCAGCCCACCTGACCCCACCCTCCA...
NM_001287808.1:c.88+11_88+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001274737.1:n.88+11_88+43delinsCCAGCCCACCTGACCCCACCCTCCAGG...
NM_001287809.1:c.445+11_445+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001274738.1:n.445+11_445+43delinsCCAGCCCACCTGACCCCACCCTCCA...
NM_032793.4:c.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_116182.2:n.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCAGGG...
NR_109896.1:n.737+11_737+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT
XM_005271285.1:c.550+11_550+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	XP_005271342.1:n.550+11_550+43delinsCCAGCCCACCTGACCCCACCCTCCA...
XM_011542312.1:c.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	XP_011540614.1:n.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCA...
XR_946783.1:n.704+11_704+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT
NM_001349821.1:c.550+11_550+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001336750.1:n.550+11_550+43delinsCCAGCCCACCTGACCCCACCCTCCA...
NM_001349822.1:c.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001336751.1:n.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCA...
NM_001349823.1:c.211+11_211+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001336752.1:n.211+11_211+43delinsCCAGCCCACCTGACCCCACCCTCCA...
NM_001136493.3:c.595+11_595+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001129965.1:n.595+11_595+43delinsCCAGCCCACCTGACCCCACCCTCCA...
NM_001287809.2:c.445+11_445+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001274738.1:n.445+11_445+43delinsCCAGCCCACCTGACCCCACCCTCCA...
NM_001349821.2:c.550+11_550+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001336750.1:n.550+11_550+43delinsCCAGCCCACCTGACCCCACCCTCCA...
NM_001349822.2:c.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001336751.1:n.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCA...
NM_001349823.2:c.211+11_211+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001336752.1:n.211+11_211+43delinsCCAGCCCACCTGACCCCACCCTCCA...
NM_032793.5:c.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT MANE Select	NP_116182.2:n.556+11_556+43delinsCCAGCCCACCTGACCCCACCCTCCAGGG...
NR_109896.2:n.704+11_704+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT
NM_001287808.2:c.88+11_88+43delinsCCAGCCCACCTGACCCCACCCTCCAGGGACCCT	NP_001274737.1:n.88+11_88+43delinsCCAGCCCACCTGACCCCACCCTCCAGG...