Canonical Allele Identifier: CA1164196457

Gene: MFSD2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965576_39965587delinsCACCCTCCAGGG , CM000663.2:g.39965576_39965587delinsCACCCTCCAGGG	GRCh38
NC_000001.10:g.40431248_40431259delinsCACCCTCCAGGG , CM000663.1:g.40431248_40431259delinsCACCCTCCAGGG	GRCh37
NC_000001.9:g.40203835_40203846delinsCACCCTCCAGGG	NCBI36
NG_053084.1:g.15465_15476delinsCACCCTCCAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.556+27_556+38delinsCACCCTCCAGGG MANE Select	ENSP00000361898.6:n.556+27_556+38delinsCACCCTCCAGGG
ENST00000372809.5:c.595+27_595+38delinsCACCCTCCAGGG	ENSP00000361895.5:n.595+27_595+38delinsCACCCTCCAGGG
ENST00000372811.9:c.556+27_556+38delinsCACCCTCCAGGG	ENSP00000361898.5:n.556+27_556+38delinsCACCCTCCAGGG
ENST00000420632.6:c.88+27_88+38delinsCACCCTCCAGGG	ENSP00000391261.2:n.88+27_88+38delinsCACCCTCCAGGG
ENST00000434861.5:c.550+27_550+38delinsCACCCTCCAGGG	ENSP00000407606.1:n.550+27_550+38delinsCACCCTCCAGGG
ENST00000469745.5:n.468+27_468+38delinsCACCCTCCAGGG
ENST00000480630.5:n.1203+27_1203+38delinsCACCCTCCAGGG
ENST00000483824.5:n.691+27_691+38delinsCACCCTCCAGGG
NM_001136493.2:c.595+27_595+38delinsCACCCTCCAGGG	NP_001129965.1:n.595+27_595+38delinsCACCCTCCAGGG
NM_001287808.1:c.88+27_88+38delinsCACCCTCCAGGG	NP_001274737.1:n.88+27_88+38delinsCACCCTCCAGGG
NM_001287809.1:c.445+27_445+38delinsCACCCTCCAGGG	NP_001274738.1:n.445+27_445+38delinsCACCCTCCAGGG
NM_032793.4:c.556+27_556+38delinsCACCCTCCAGGG	NP_116182.2:n.556+27_556+38delinsCACCCTCCAGGG
NR_109896.1:n.737+27_737+38delinsCACCCTCCAGGG
XM_005271285.1:c.550+27_550+38delinsCACCCTCCAGGG	XP_005271342.1:n.550+27_550+38delinsCACCCTCCAGGG
XM_011542312.1:c.556+27_556+38delinsCACCCTCCAGGG	XP_011540614.1:n.556+27_556+38delinsCACCCTCCAGGG
XR_946783.1:n.704+27_704+38delinsCACCCTCCAGGG
NM_001349821.1:c.550+27_550+38delinsCACCCTCCAGGG	NP_001336750.1:n.550+27_550+38delinsCACCCTCCAGGG
NM_001349822.1:c.556+27_556+38delinsCACCCTCCAGGG	NP_001336751.1:n.556+27_556+38delinsCACCCTCCAGGG
NM_001349823.1:c.211+27_211+38delinsCACCCTCCAGGG	NP_001336752.1:n.211+27_211+38delinsCACCCTCCAGGG
NM_001136493.3:c.595+27_595+38delinsCACCCTCCAGGG	NP_001129965.1:n.595+27_595+38delinsCACCCTCCAGGG
NM_001287809.2:c.445+27_445+38delinsCACCCTCCAGGG	NP_001274738.1:n.445+27_445+38delinsCACCCTCCAGGG
NM_001349821.2:c.550+27_550+38delinsCACCCTCCAGGG	NP_001336750.1:n.550+27_550+38delinsCACCCTCCAGGG
NM_001349822.2:c.556+27_556+38delinsCACCCTCCAGGG	NP_001336751.1:n.556+27_556+38delinsCACCCTCCAGGG
NM_001349823.2:c.211+27_211+38delinsCACCCTCCAGGG	NP_001336752.1:n.211+27_211+38delinsCACCCTCCAGGG
NM_032793.5:c.556+27_556+38delinsCACCCTCCAGGG MANE Select	NP_116182.2:n.556+27_556+38delinsCACCCTCCAGGG
NR_109896.2:n.704+27_704+38delinsCACCCTCCAGGG
NM_001287808.2:c.88+27_88+38delinsCACCCTCCAGGG	NP_001274737.1:n.88+27_88+38delinsCACCCTCCAGGG