Canonical Allele Identifier: CA788698

Gene: MFSD2A

Linked Data

• dbSNP Id: rs747485671
• ExAC: 1:40431251 CCTCCAGGGACCCT / C
• gnomAD v2: 1-40431251-CCTCCAGGGACCCT-C
• MyVariant Identifiers: chr1:g.40431252_40431264del (hg19) ; chr1:g.39965580_39965592del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965581_39965593del , CM000663.2:g.39965581_39965593del	GRCh38
NC_000001.10:g.40431253_40431265del , CM000663.1:g.40431253_40431265del	GRCh37
NC_000001.9:g.40203840_40203852del	NCBI36
NG_053084.1:g.15470_15482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.556+32_556+44del MANE Select	ENSP00000361898.6:n.556+32_556+44del
ENST00000372809.5:c.595+32_595+44del	ENSP00000361895.5:n.595+32_595+44del
ENST00000372811.9:c.556+32_556+44del	ENSP00000361898.5:n.556+32_556+44del
ENST00000420632.6:c.88+32_88+44del	ENSP00000391261.2:n.88+32_88+44del
ENST00000434861.5:c.550+32_550+44del	ENSP00000407606.1:n.550+32_550+44del
ENST00000469745.5:n.468+32_468+44del
ENST00000480630.5:n.1203+32_1203+44del
ENST00000483824.5:n.691+32_691+44del
NM_001136493.2:c.595+32_595+44del	NP_001129965.1:n.595+32_595+44del
NM_001287808.1:c.88+32_88+44del	NP_001274737.1:n.88+32_88+44del
NM_001287809.1:c.445+32_445+44del	NP_001274738.1:n.445+32_445+44del
NM_032793.4:c.556+32_556+44del	NP_116182.2:n.556+32_556+44del
NR_109896.1:n.737+32_737+44del
XM_005271285.1:c.550+32_550+44del	XP_005271342.1:n.550+32_550+44del
XM_011542312.1:c.556+32_556+44del	XP_011540614.1:n.556+32_556+44del
XR_946783.1:n.704+32_704+44del
NM_001349821.1:c.550+32_550+44del	NP_001336750.1:n.550+32_550+44del
NM_001349822.1:c.556+32_556+44del	NP_001336751.1:n.556+32_556+44del
NM_001349823.1:c.211+32_211+44del	NP_001336752.1:n.211+32_211+44del
NM_001136493.3:c.595+32_595+44del	NP_001129965.1:n.595+32_595+44del
NM_001287809.2:c.445+32_445+44del	NP_001274738.1:n.445+32_445+44del
NM_001349821.2:c.550+32_550+44del	NP_001336750.1:n.550+32_550+44del
NM_001349822.2:c.556+32_556+44del	NP_001336751.1:n.556+32_556+44del
NM_001349823.2:c.211+32_211+44del	NP_001336752.1:n.211+32_211+44del
NM_032793.5:c.556+32_556+44del MANE Select	NP_116182.2:n.556+32_556+44del
NR_109896.2:n.704+32_704+44del
NM_001287808.2:c.88+32_88+44del	NP_001274737.1:n.88+32_88+44del