Canonical Allele Identifier: CA2672041852
Gene: MFSD8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921674del , CM000666.2:g.127921674del GRCh38
NC_000004.11:g.128842829del , CM000666.1:g.128842829del GRCh37
NC_000004.10:g.129062279del NCBI36
NG_008657.1:g.49312del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1201del ENSP00000296468.3:p.Cys401AlafsTer13
ENST00000509826.2:c.*522del ENSP00000421176.2:n.*522del
ENST00000513559.6:c.919del ENSP00000425000.2:p.Cys307AlafsTer13
ENST00000515130.6:c.*86del ENSP00000493056.1:n.*86del
ENST00000641025.1:c.*86del ENSP00000493346.1:n.*86del
ENST00000641092.1:c.*86del ENSP00000493392.1:n.*86del
ENST00000641133.1:c.*515del ENSP00000493192.1:n.*515del
ENST00000641146.1:n.1067del
ENST00000641147.1:c.751del ENSP00000493133.1:p.Cys251AlafsTer13
ENST00000641178.1:c.1066del ENSP00000492989.1:p.Cys356AlafsTer13
ENST00000641186.1:c.1087del ENSP00000493347.1:p.Cys363AlafsTer13
ENST00000641228.1:c.*86del ENSP00000493194.1:n.*86del
ENST00000641332.1:c.*262del ENSP00000493397.1:n.*262del
ENST00000641340.1:c.*330del ENSP00000493191.1:n.*330del
ENST00000641388.1:n.448del
ENST00000641393.1:c.751del ENSP00000493197.1:p.Cys251AlafsTer13
ENST00000641397.1:c.*86del ENSP00000493406.1:n.*86del
ENST00000641413.1:c.126del
ENST00000641434.1:c.1201del ENSP00000493279.1:p.Cys401AlafsTer13
ENST00000641464.1:c.*434del ENSP00000493438.1:n.*434del
ENST00000641482.1:c.*86del ENSP00000493277.1:n.*86del
ENST00000641508.1:c.*434del ENSP00000493209.1:n.*434del
ENST00000641509.1:c.886del ENSP00000493459.1:p.Cys296AlafsTer13
ENST00000641590.1:c.*86del ENSP00000493132.1:n.*86del
ENST00000641658.1:c.*366del ENSP00000492987.1:n.*366del
ENST00000641686.2:c.1201del MANE Select ENSP00000493218.2:p.Cys401AlafsTer13
ENST00000641690.1:c.1000del ENSP00000492966.1:p.Cys334AlafsTer13
ENST00000641742.1:c.*366del ENSP00000493315.1:n.*366del
ENST00000641748.1:c.1201del ENSP00000493330.1:p.Cys401AlafsTer13
ENST00000641753.1:c.1028del
ENST00000641774.1:c.*453del ENSP00000492960.1:n.*453del
ENST00000641830.1:c.433del
ENST00000641843.1:c.*262del ENSP00000493174.1:n.*262del
ENST00000641869.1:c.402del
ENST00000641870.1:c.*262del ENSP00000493044.1:n.*262del
ENST00000641882.1:c.*366del ENSP00000493301.1:n.*366del
ENST00000641928.1:c.*330del ENSP00000493418.1:n.*330del
ENST00000641949.1:c.554-837del ENSP00000492891.1:n.554-837del
ENST00000642012.1:n.1065del
ENST00000642034.1:c.*86del ENSP00000493285.1:n.*86del
ENST00000642042.1:c.1201del ENSP00000493260.1:p.Cys401AlafsTer13
ENST00000642078.1:c.*262del ENSP00000492885.1:n.*262del
ENST00000296468.7:c.1201del ENSP00000296468.3:p.Cys401AlafsTer13
ENST00000504126.1:n.229del
ENST00000513559.5:c.1066del ENSP00000425000.1:p.Cys356AlafsTer13
ENST00000515130.5:n.1543del
NM_152778.2:c.1201del NP_689991.1:p.Cys401AlafsTer13
XM_005262893.1:c.1201del XP_005262950.1:p.Cys401AlafsTer13
XM_005262896.1:c.1054del XP_005262953.1:p.Cys352AlafsTer13
XM_005262897.1:c.1000del XP_005262954.1:p.Cys334AlafsTer13
XM_005262898.2:c.*86del XP_005262955.1:n.*86del
XM_011531830.1:c.1087del XP_011530132.1:p.Cys363AlafsTer13
XM_011531831.1:c.886del XP_011530133.1:p.Cys296AlafsTer13
XM_011531832.1:c.*86del XP_011530134.1:n.*86del
XR_938717.1:n.1278del
NM_001363520.1:c.1000del NP_001350449.1:p.Cys334AlafsTer13
NM_001363521.1:c.886del NP_001350450.1:p.Cys296AlafsTer13
XM_005262898.3:c.*86del XP_005262955.1:n.*86del
XM_017007989.1:c.*86del XP_016863478.1:n.*86del
XM_024453981.1:c.1066del XP_024309749.1:p.Cys356AlafsTer13
XM_024453982.1:c.952del XP_024309750.1:p.Cys318AlafsTer13
XM_024453983.1:c.751del XP_024309751.1:p.Cys251AlafsTer13
XR_001741194.1:n.1174del
XR_001741195.1:n.1060del
XR_001741196.1:n.973del
XR_001741197.1:n.1133del
XR_001741198.2:n.1029del
XR_001741199.1:n.1029del
XR_938717.2:n.1278del
NM_001363520.2:c.1000del NP_001350449.1:p.Cys334AlafsTer13
NM_001363521.2:c.886del NP_001350450.1:p.Cys296AlafsTer13
NM_001371590.1:c.1066del NP_001358519.1:p.Cys356AlafsTer13
NM_001371591.1:c.1201del NP_001358520.1:p.Cys401AlafsTer13
NM_001371592.1:c.1207del NP_001358521.1:p.Cys403AlafsTer13
NM_001371593.1:c.1087del NP_001358522.1:p.Cys363AlafsTer13
NM_001371594.1:c.1054del NP_001358523.1:p.Cys352AlafsTer13
NM_001371595.1:c.919del NP_001358524.1:p.Cys307AlafsTer13
NM_001371596.2:c.1201del MANE Select NP_001358525.1:p.Cys401AlafsTer13
NM_152778.3:c.1201del NP_689991.1:p.Cys401AlafsTer13
NM_152778.4:c.1201del NP_689991.1:p.Cys401AlafsTer13