Canonical Allele Identifier: CA2573138008
Gene: MFSD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1418701
ClinVar RCV Id: RCV001952244
dbSNP Id: rs2148840216

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921711_127921720del , CM000666.2:g.127921711_127921720del GRCh38
NC_000004.11:g.128842866_128842875del , CM000666.1:g.128842866_128842875del GRCh37
NC_000004.10:g.129062316_129062325del NCBI36
NG_008657.1:g.49269_49278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1158_1167del ENSP00000296468.3:p.Trp387GlnfsTer24
ENST00000509826.2:c.*479_*488del ENSP00000421176.2:n.*479_*488del
ENST00000513559.6:c.876_885del ENSP00000425000.2:p.Trp293GlnfsTer24
ENST00000515130.6:c.*43_*52del ENSP00000493056.1:n.*43_*52del
ENST00000641025.1:c.*43_*52del ENSP00000493346.1:n.*43_*52del
ENST00000641092.1:c.*43_*52del ENSP00000493392.1:n.*43_*52del
ENST00000641133.1:c.*472_*481del ENSP00000493192.1:n.*472_*481del
ENST00000641146.1:n.1024_1033del
ENST00000641147.1:c.708_717del ENSP00000493133.1:p.Trp237GlnfsTer24
ENST00000641178.1:c.1023_1032del ENSP00000492989.1:p.Trp342GlnfsTer24
ENST00000641186.1:c.1044_1053del ENSP00000493347.1:p.Trp349GlnfsTer24
ENST00000641228.1:c.*43_*52del ENSP00000493194.1:n.*43_*52del
ENST00000641332.1:c.*219_*228del ENSP00000493397.1:n.*219_*228del
ENST00000641340.1:c.*287_*296del ENSP00000493191.1:n.*287_*296del
ENST00000641388.1:n.405_414del
ENST00000641393.1:c.708_717del ENSP00000493197.1:p.Trp237GlnfsTer24
ENST00000641397.1:c.*43_*52del ENSP00000493406.1:n.*43_*52del
ENST00000641413.1:c.83_92del
ENST00000641434.1:c.1158_1167del ENSP00000493279.1:p.Trp387GlnfsTer24
ENST00000641464.1:c.*391_*400del ENSP00000493438.1:n.*391_*400del
ENST00000641482.1:c.*43_*52del ENSP00000493277.1:n.*43_*52del
ENST00000641508.1:c.*391_*400del ENSP00000493209.1:n.*391_*400del
ENST00000641509.1:c.843_852del ENSP00000493459.1:p.Trp282GlnfsTer24
ENST00000641590.1:c.*43_*52del ENSP00000493132.1:n.*43_*52del
ENST00000641658.1:c.*323_*332del ENSP00000492987.1:n.*323_*332del
ENST00000641686.2:c.1158_1167del MANE Select ENSP00000493218.2:p.Trp387GlnfsTer24
ENST00000641690.1:c.957_966del ENSP00000492966.1:p.Trp320GlnfsTer24
ENST00000641742.1:c.*323_*332del ENSP00000493315.1:n.*323_*332del
ENST00000641748.1:c.1158_1167del ENSP00000493330.1:p.Trp387GlnfsTer24
ENST00000641753.1:c.985_994del
ENST00000641774.1:c.*410_*419del ENSP00000492960.1:n.*410_*419del
ENST00000641830.1:c.390_399del
ENST00000641843.1:c.*219_*228del ENSP00000493174.1:n.*219_*228del
ENST00000641869.1:c.359_368del
ENST00000641870.1:c.*219_*228del ENSP00000493044.1:n.*219_*228del
ENST00000641882.1:c.*323_*332del ENSP00000493301.1:n.*323_*332del
ENST00000641928.1:c.*287_*296del ENSP00000493418.1:n.*287_*296del
ENST00000641949.1:c.554-880_554-871del ENSP00000492891.1:n.554-880_554-871del
ENST00000642012.1:n.1022_1031del
ENST00000642034.1:c.*43_*52del ENSP00000493285.1:n.*43_*52del
ENST00000642042.1:c.1158_1167del ENSP00000493260.1:p.Trp387GlnfsTer24
ENST00000642078.1:c.*219_*228del ENSP00000492885.1:n.*219_*228del
ENST00000296468.7:c.1158_1167del ENSP00000296468.3:p.Trp387GlnfsTer24
ENST00000504126.1:n.186_195del
ENST00000513559.5:c.1023_1032del ENSP00000425000.1:p.Trp342GlnfsTer24
ENST00000515130.5:n.1500_1509del
NM_152778.2:c.1158_1167del NP_689991.1:p.Trp387GlnfsTer24
XM_005262893.1:c.1158_1167del XP_005262950.1:p.Trp387GlnfsTer24
XM_005262896.1:c.1011_1020del XP_005262953.1:p.Trp338GlnfsTer24
XM_005262897.1:c.957_966del XP_005262954.1:p.Trp320GlnfsTer24
XM_005262898.2:c.*43_*52del XP_005262955.1:n.*43_*52del
XM_011531830.1:c.1044_1053del XP_011530132.1:p.Trp349GlnfsTer24
XM_011531831.1:c.843_852del XP_011530133.1:p.Trp282GlnfsTer24
XM_011531832.1:c.*43_*52del XP_011530134.1:n.*43_*52del
XR_938717.1:n.1235_1244del
NM_001363520.1:c.957_966del NP_001350449.1:p.Trp320GlnfsTer24
NM_001363521.1:c.843_852del NP_001350450.1:p.Trp282GlnfsTer24
XM_005262898.3:c.*43_*52del XP_005262955.1:n.*43_*52del
XM_017007989.1:c.*43_*52del XP_016863478.1:n.*43_*52del
XM_024453981.1:c.1023_1032del XP_024309749.1:p.Trp342GlnfsTer24
XM_024453982.1:c.909_918del XP_024309750.1:p.Trp304GlnfsTer24
XM_024453983.1:c.708_717del XP_024309751.1:p.Trp237GlnfsTer24
XR_001741194.1:n.1131_1140del
XR_001741195.1:n.1017_1026del
XR_001741196.1:n.930_939del
XR_001741197.1:n.1090_1099del
XR_001741198.2:n.986_995del
XR_001741199.1:n.986_995del
XR_938717.2:n.1235_1244del
NM_001363520.2:c.957_966del NP_001350449.1:p.Trp320GlnfsTer24
NM_001363521.2:c.843_852del NP_001350450.1:p.Trp282GlnfsTer24
NM_001371590.1:c.1023_1032del NP_001358519.1:p.Trp342GlnfsTer24
NM_001371591.1:c.1158_1167del NP_001358520.1:p.Trp387GlnfsTer24
NM_001371592.1:c.1164_1173del NP_001358521.1:p.Trp389GlnfsTer24
NM_001371593.1:c.1044_1053del NP_001358522.1:p.Trp349GlnfsTer24
NM_001371594.1:c.1011_1020del NP_001358523.1:p.Trp338GlnfsTer24
NM_001371595.1:c.876_885del NP_001358524.1:p.Trp293GlnfsTer24
NM_001371596.2:c.1158_1167del MANE Select NP_001358525.1:p.Trp387GlnfsTer24
NM_152778.3:c.1158_1167del NP_689991.1:p.Trp387GlnfsTer24
NM_152778.4:c.1158_1167del NP_689991.1:p.Trp387GlnfsTer24