Canonical Allele Identifier: CA2573138010
Gene: MFSD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1455411
ClinVar RCV Id: RCV001946577
dbSNP Id: rs2148840973

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921875del , CM000666.2:g.127921875del GRCh38
NC_000004.11:g.128843030del , CM000666.1:g.128843030del GRCh37
NC_000004.10:g.129062480del NCBI36
NG_008657.1:g.49113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1090del ENSP00000296468.3:p.Ile364TyrfsTer?
ENST00000509826.2:c.*323del ENSP00000421176.2:n.*323del
ENST00000513559.6:c.808del ENSP00000425000.2:p.Ile270TyrfsTer?
ENST00000515130.6:c.864-101del ENSP00000493056.1:n.864-101del
ENST00000641025.1:c.999-101del ENSP00000493346.1:n.999-101del
ENST00000641092.1:c.798-101del ENSP00000493392.1:n.798-101del
ENST00000641133.1:c.*404del ENSP00000493192.1:n.*404del
ENST00000641146.1:n.956del
ENST00000641147.1:c.640del ENSP00000493133.1:p.Ile214TyrfsTer?
ENST00000641178.1:c.955del ENSP00000492989.1:p.Ile319TyrfsTer?
ENST00000641186.1:c.976del ENSP00000493347.1:p.Ile326TyrfsTer?
ENST00000641228.1:c.798-101del ENSP00000493194.1:n.798-101del
ENST00000641332.1:c.*164-101del ENSP00000493397.1:n.*164-101del
ENST00000641340.1:c.*232-101del ENSP00000493191.1:n.*232-101del
ENST00000641388.1:n.350-101del
ENST00000641393.1:c.640del ENSP00000493197.1:p.Ile214TyrfsTer?
ENST00000641397.1:c.684-101del ENSP00000493406.1:n.684-101del
ENST00000641413.1:c.28-101del
ENST00000641434.1:c.1090del ENSP00000493279.1:p.Ile364TyrfsTer?
ENST00000641464.1:c.*323del ENSP00000493438.1:n.*323del
ENST00000641482.1:c.999-101del ENSP00000493277.1:n.999-101del
ENST00000641508.1:c.*323del ENSP00000493209.1:n.*323del
ENST00000641509.1:c.775del ENSP00000493459.1:p.Ile259TyrfsTer?
ENST00000641590.1:c.885-101del ENSP00000493132.1:n.885-101del
ENST00000641658.1:c.*255del ENSP00000492987.1:n.*255del
ENST00000641686.2:c.1090del MANE Select ENSP00000493218.2:p.Ile364TyrfsTer?
ENST00000641690.1:c.889del ENSP00000492966.1:p.Ile297TyrfsTer?
ENST00000641742.1:c.*255del ENSP00000493315.1:n.*255del
ENST00000641748.1:c.1090del ENSP00000493330.1:p.Ile364TyrfsTer?
ENST00000641753.1:c.917del
ENST00000641774.1:c.*342del ENSP00000492960.1:n.*342del
ENST00000641830.1:c.335-101del
ENST00000641843.1:c.*164-101del ENSP00000493174.1:n.*164-101del
ENST00000641869.1:c.304-101del
ENST00000641870.1:c.*164-101del ENSP00000493044.1:n.*164-101del
ENST00000641882.1:c.*255del ENSP00000493301.1:n.*255del
ENST00000641928.1:c.*232-101del ENSP00000493418.1:n.*232-101del
ENST00000641949.1:c.554-1036del ENSP00000492891.1:n.554-1036del
ENST00000642012.1:n.954del
ENST00000642034.1:c.885-101del ENSP00000493285.1:n.885-101del
ENST00000642042.1:c.1090del ENSP00000493260.1:p.Ile364TyrfsTer?
ENST00000642078.1:c.*164-101del ENSP00000492885.1:n.*164-101del
ENST00000296468.7:c.1090del ENSP00000296468.3:p.Ile364TyrfsTer?
ENST00000504126.1:n.118del
ENST00000505284.5:n.894-101del
ENST00000509826.1:c.*323del ENSP00000421176.1:n.*323del
ENST00000513559.5:c.955del ENSP00000425000.1:p.Ile319TyrfsTer?
ENST00000515130.5:n.1445-101del
NM_152778.2:c.1090del NP_689991.1:p.Ile364TyrfsTer?
XM_005262893.1:c.1090del XP_005262950.1:p.Ile364TyrfsTer?
XM_005262896.1:c.943del XP_005262953.1:p.Ile315TyrfsTer?
XM_005262897.1:c.889del XP_005262954.1:p.Ile297TyrfsTer?
XM_005262898.2:c.999-101del XP_005262955.1:n.999-101del
XM_011531830.1:c.976del XP_011530132.1:p.Ile326TyrfsTer?
XM_011531831.1:c.775del XP_011530133.1:p.Ile259TyrfsTer?
XM_011531832.1:c.885-101del XP_011530134.1:n.885-101del
XR_938717.1:n.1167del
NM_001363520.1:c.889del NP_001350449.1:p.Ile297TyrfsTer?
NM_001363521.1:c.775del NP_001350450.1:p.Ile259TyrfsTer?
XM_005262898.3:c.999-101del XP_005262955.1:n.999-101del
XM_017007989.1:c.798-101del XP_016863478.1:n.798-101del
XM_024453981.1:c.955del XP_024309749.1:p.Ile319TyrfsTer?
XM_024453982.1:c.841del XP_024309750.1:p.Ile281TyrfsTer?
XM_024453983.1:c.640del XP_024309751.1:p.Ile214TyrfsTer?
XR_001741194.1:n.1076-101del
XR_001741195.1:n.962-101del
XR_001741196.1:n.875-101del
XR_001741197.1:n.1022del
XR_001741198.2:n.931-101del
XR_001741199.1:n.931-101del
XR_938717.2:n.1167del
NM_001363520.2:c.889del NP_001350449.1:p.Ile297TyrfsTer?
NM_001363521.2:c.775del NP_001350450.1:p.Ile259TyrfsTer?
NM_001371590.1:c.955del NP_001358519.1:p.Ile319TyrfsTer?
NM_001371591.1:c.1090del NP_001358520.1:p.Ile364TyrfsTer?
NM_001371592.1:c.1096del NP_001358521.1:p.Ile366TyrfsTer?
NM_001371593.1:c.976del NP_001358522.1:p.Ile326TyrfsTer?
NM_001371594.1:c.943del NP_001358523.1:p.Ile315TyrfsTer?
NM_001371595.1:c.808del NP_001358524.1:p.Ile270TyrfsTer?
NM_001371596.2:c.1090del MANE Select NP_001358525.1:p.Ile364TyrfsTer?
NM_152778.3:c.1090del NP_689991.1:p.Ile364TyrfsTer?
NM_152778.4:c.1090del NP_689991.1:p.Ile364TyrfsTer?