Canonical Allele Identifier: CA1492804550
Gene: MFSD8 HGNC NCBI

Linked Data

dbSNP Id: rs1736397404

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921926_127921931del , CM000666.2:g.127921926_127921931del GRCh38
NC_000004.11:g.128843081_128843086del , CM000666.1:g.128843081_128843086del GRCh37
NC_000004.10:g.129062531_129062536del NCBI36
NG_008657.1:g.49055_49060del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1032_1037del ENSP00000296468.3:p.Ile345_Val346del
ENST00000509826.2:c.*265_*270del ENSP00000421176.2:n.*265_*270del
ENST00000513559.6:c.750_755del ENSP00000425000.2:p.Ile251_Val252del
ENST00000515130.6:c.864-159_864-154del ENSP00000493056.1:n.864-159_864-154del
ENST00000641025.1:c.999-159_999-154del ENSP00000493346.1:n.999-159_999-154del
ENST00000641092.1:c.798-159_798-154del ENSP00000493392.1:n.798-159_798-154del
ENST00000641133.1:c.*346_*351del ENSP00000493192.1:n.*346_*351del
ENST00000641146.1:n.898_903del
ENST00000641147.1:c.582_587del ENSP00000493133.1:p.Ile195_Val196del
ENST00000641178.1:c.897_902del ENSP00000492989.1:p.Ile300_Val301del
ENST00000641186.1:c.918_923del ENSP00000493347.1:p.Ile307_Val308del
ENST00000641228.1:c.798-159_798-154del ENSP00000493194.1:n.798-159_798-154del
ENST00000641332.1:c.*164-159_*164-154del ENSP00000493397.1:n.*164-159_*164-154del
ENST00000641340.1:c.*232-159_*232-154del ENSP00000493191.1:n.*232-159_*232-154del
ENST00000641388.1:n.350-159_350-154del
ENST00000641393.1:c.582_587del ENSP00000493197.1:p.Ile195_Val196del
ENST00000641397.1:c.684-159_684-154del ENSP00000493406.1:n.684-159_684-154del
ENST00000641413.1:c.28-159_28-154del
ENST00000641434.1:c.1032_1037del ENSP00000493279.1:p.Ile345_Val346del
ENST00000641464.1:c.*265_*270del ENSP00000493438.1:n.*265_*270del
ENST00000641482.1:c.999-159_999-154del ENSP00000493277.1:n.999-159_999-154del
ENST00000641508.1:c.*265_*270del ENSP00000493209.1:n.*265_*270del
ENST00000641509.1:c.717_722del ENSP00000493459.1:p.Ile240_Val241del
ENST00000641590.1:c.885-159_885-154del ENSP00000493132.1:n.885-159_885-154del
ENST00000641658.1:c.*197_*202del ENSP00000492987.1:n.*197_*202del
ENST00000641686.2:c.1032_1037del MANE Select ENSP00000493218.2:p.Ile345_Val346del
ENST00000641690.1:c.831_836del ENSP00000492966.1:p.Ile278_Val279del
ENST00000641742.1:c.*197_*202del ENSP00000493315.1:n.*197_*202del
ENST00000641748.1:c.1032_1037del ENSP00000493330.1:p.Ile345_Val346del
ENST00000641753.1:c.859_864del
ENST00000641774.1:c.*284_*289del ENSP00000492960.1:n.*284_*289del
ENST00000641830.1:c.335-159_335-154del
ENST00000641843.1:c.*164-159_*164-154del ENSP00000493174.1:n.*164-159_*164-154del
ENST00000641869.1:c.304-159_304-154del
ENST00000641870.1:c.*164-159_*164-154del ENSP00000493044.1:n.*164-159_*164-154del
ENST00000641882.1:c.*197_*202del ENSP00000493301.1:n.*197_*202del
ENST00000641928.1:c.*232-159_*232-154del ENSP00000493418.1:n.*232-159_*232-154del
ENST00000641949.1:c.554-1094_554-1089del ENSP00000492891.1:n.554-1094_554-1089del
ENST00000642012.1:n.896_901del
ENST00000642034.1:c.885-159_885-154del ENSP00000493285.1:n.885-159_885-154del
ENST00000642042.1:c.1032_1037del ENSP00000493260.1:p.Ile345_Val346del
ENST00000642078.1:c.*164-159_*164-154del ENSP00000492885.1:n.*164-159_*164-154del
ENST00000296468.7:c.1032_1037del ENSP00000296468.3:p.Ile345_Val346del
ENST00000504126.1:n.60_65del
ENST00000505284.5:n.894-159_894-154del
ENST00000509826.1:c.*265_*270del ENSP00000421176.1:n.*265_*270del
ENST00000513559.5:c.897_902del ENSP00000425000.1:p.Ile300_Val301del
ENST00000515130.5:n.1445-159_1445-154del
NM_152778.2:c.1032_1037del NP_689991.1:p.Ile345_Val346del
XM_005262893.1:c.1032_1037del XP_005262950.1:p.Ile345_Val346del
XM_005262896.1:c.885_890del XP_005262953.1:p.Ile296_Val297del
XM_005262897.1:c.831_836del XP_005262954.1:p.Ile278_Val279del
XM_005262898.2:c.999-159_999-154del XP_005262955.1:n.999-159_999-154del
XM_011531830.1:c.918_923del XP_011530132.1:p.Ile307_Val308del
XM_011531831.1:c.717_722del XP_011530133.1:p.Ile240_Val241del
XM_011531832.1:c.885-159_885-154del XP_011530134.1:n.885-159_885-154del
XR_938717.1:n.1109_1114del
NM_001363520.1:c.831_836del NP_001350449.1:p.Ile278_Val279del
NM_001363521.1:c.717_722del NP_001350450.1:p.Ile240_Val241del
XM_005262898.3:c.999-159_999-154del XP_005262955.1:n.999-159_999-154del
XM_017007989.1:c.798-159_798-154del XP_016863478.1:n.798-159_798-154del
XM_024453981.1:c.897_902del XP_024309749.1:p.Ile300_Val301del
XM_024453982.1:c.783_788del XP_024309750.1:p.Ile262_Val263del
XM_024453983.1:c.582_587del XP_024309751.1:p.Ile195_Val196del
XR_001741194.1:n.1076-159_1076-154del
XR_001741195.1:n.962-159_962-154del
XR_001741196.1:n.875-159_875-154del
XR_001741197.1:n.964_969del
XR_001741198.2:n.931-159_931-154del
XR_001741199.1:n.931-159_931-154del
XR_938717.2:n.1109_1114del
NM_001363520.2:c.831_836del NP_001350449.1:p.Ile278_Val279del
NM_001363521.2:c.717_722del NP_001350450.1:p.Ile240_Val241del
NM_001371590.1:c.897_902del NP_001358519.1:p.Ile300_Val301del
NM_001371591.1:c.1032_1037del NP_001358520.1:p.Ile345_Val346del
NM_001371592.1:c.1038_1043del NP_001358521.1:p.Ile347_Val348del
NM_001371593.1:c.918_923del NP_001358522.1:p.Ile307_Val308del
NM_001371594.1:c.885_890del NP_001358523.1:p.Ile296_Val297del
NM_001371595.1:c.750_755del NP_001358524.1:p.Ile251_Val252del
NM_001371596.2:c.1032_1037del MANE Select NP_001358525.1:p.Ile345_Val346del
NM_152778.3:c.1032_1037del NP_689991.1:p.Ile345_Val346del
NM_152778.4:c.1032_1037del NP_689991.1:p.Ile345_Val346del