Canonical Allele Identifier: CA1492804584
Gene: MFSD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1686641
ClinVar RCV Id: RCV002247154
dbSNP Id: rs1736400607

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921941del , CM000666.2:g.127921941del GRCh38
NC_000004.11:g.128843096del , CM000666.1:g.128843096del GRCh37
NC_000004.10:g.129062546del NCBI36
NG_008657.1:g.49044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1021del ENSP00000296468.3:p.Leu341TrpfsTer?
ENST00000509826.2:c.*254del ENSP00000421176.2:n.*254del
ENST00000513559.6:c.739del ENSP00000425000.2:p.Leu247TrpfsTer?
ENST00000515130.6:c.864-170del ENSP00000493056.1:n.864-170del
ENST00000641025.1:c.999-170del ENSP00000493346.1:n.999-170del
ENST00000641092.1:c.798-170del ENSP00000493392.1:n.798-170del
ENST00000641133.1:c.*335del ENSP00000493192.1:n.*335del
ENST00000641146.1:n.887del
ENST00000641147.1:c.571del ENSP00000493133.1:p.Leu191TrpfsTer?
ENST00000641178.1:c.886del ENSP00000492989.1:p.Leu296TrpfsTer?
ENST00000641186.1:c.907del ENSP00000493347.1:p.Leu303TrpfsTer?
ENST00000641228.1:c.798-170del ENSP00000493194.1:n.798-170del
ENST00000641332.1:c.*164-170del ENSP00000493397.1:n.*164-170del
ENST00000641340.1:c.*232-170del ENSP00000493191.1:n.*232-170del
ENST00000641388.1:n.350-170del
ENST00000641393.1:c.571del ENSP00000493197.1:p.Leu191TrpfsTer?
ENST00000641397.1:c.684-170del ENSP00000493406.1:n.684-170del
ENST00000641413.1:c.28-170del
ENST00000641434.1:c.1021del ENSP00000493279.1:p.Leu341TrpfsTer?
ENST00000641464.1:c.*254del ENSP00000493438.1:n.*254del
ENST00000641482.1:c.999-170del ENSP00000493277.1:n.999-170del
ENST00000641508.1:c.*254del ENSP00000493209.1:n.*254del
ENST00000641509.1:c.706del ENSP00000493459.1:p.Leu236TrpfsTer?
ENST00000641538.1:c.732del
ENST00000641590.1:c.885-170del ENSP00000493132.1:n.885-170del
ENST00000641658.1:c.*186del ENSP00000492987.1:n.*186del
ENST00000641686.2:c.1021del MANE Select ENSP00000493218.2:p.Leu341TrpfsTer?
ENST00000641690.1:c.820del ENSP00000492966.1:p.Leu274TrpfsTer?
ENST00000641742.1:c.*186del ENSP00000493315.1:n.*186del
ENST00000641748.1:c.1021del ENSP00000493330.1:p.Leu341TrpfsTer?
ENST00000641753.1:c.848del
ENST00000641774.1:c.*273del ENSP00000492960.1:n.*273del
ENST00000641830.1:c.335-170del
ENST00000641843.1:c.*164-170del ENSP00000493174.1:n.*164-170del
ENST00000641869.1:c.304-170del
ENST00000641870.1:c.*164-170del ENSP00000493044.1:n.*164-170del
ENST00000641882.1:c.*186del ENSP00000493301.1:n.*186del
ENST00000641928.1:c.*232-170del ENSP00000493418.1:n.*232-170del
ENST00000641949.1:c.554-1105del ENSP00000492891.1:n.554-1105del
ENST00000642012.1:n.885del
ENST00000642034.1:c.885-170del ENSP00000493285.1:n.885-170del
ENST00000642042.1:c.1021del ENSP00000493260.1:p.Leu341TrpfsTer?
ENST00000642078.1:c.*164-170del ENSP00000492885.1:n.*164-170del
ENST00000296468.7:c.1021del ENSP00000296468.3:p.Leu341TrpfsTer?
ENST00000504126.1:n.49del
ENST00000505284.5:n.894-170del
ENST00000509826.1:c.*254del ENSP00000421176.1:n.*254del
ENST00000513559.5:c.886del ENSP00000425000.1:p.Leu296TrpfsTer?
ENST00000515130.5:n.1445-170del
NM_152778.2:c.1021del NP_689991.1:p.Leu341TrpfsTer?
XM_005262893.1:c.1021del XP_005262950.1:p.Leu341TrpfsTer?
XM_005262896.1:c.874del XP_005262953.1:p.Leu292TrpfsTer?
XM_005262897.1:c.820del XP_005262954.1:p.Leu274TrpfsTer?
XM_005262898.2:c.999-170del XP_005262955.1:n.999-170del
XM_011531830.1:c.907del XP_011530132.1:p.Leu303TrpfsTer?
XM_011531831.1:c.706del XP_011530133.1:p.Leu236TrpfsTer?
XM_011531832.1:c.885-170del XP_011530134.1:n.885-170del
XR_938717.1:n.1098del
NM_001363520.1:c.820del NP_001350449.1:p.Leu274TrpfsTer?
NM_001363521.1:c.706del NP_001350450.1:p.Leu236TrpfsTer?
XM_005262898.3:c.999-170del XP_005262955.1:n.999-170del
XM_017007989.1:c.798-170del XP_016863478.1:n.798-170del
XM_024453981.1:c.886del XP_024309749.1:p.Leu296TrpfsTer?
XM_024453982.1:c.772del XP_024309750.1:p.Leu258TrpfsTer?
XM_024453983.1:c.571del XP_024309751.1:p.Leu191TrpfsTer?
XR_001741194.1:n.1076-170del
XR_001741195.1:n.962-170del
XR_001741196.1:n.875-170del
XR_001741197.1:n.953del
XR_001741198.2:n.931-170del
XR_001741199.1:n.931-170del
XR_938717.2:n.1098del
NM_001363520.2:c.820del NP_001350449.1:p.Leu274TrpfsTer?
NM_001363521.2:c.706del NP_001350450.1:p.Leu236TrpfsTer?
NM_001371590.1:c.886del NP_001358519.1:p.Leu296TrpfsTer?
NM_001371591.1:c.1021del NP_001358520.1:p.Leu341TrpfsTer?
NM_001371592.1:c.1027del NP_001358521.1:p.Leu343TrpfsTer?
NM_001371593.1:c.907del NP_001358522.1:p.Leu303TrpfsTer?
NM_001371594.1:c.874del NP_001358523.1:p.Leu292TrpfsTer?
NM_001371595.1:c.739del NP_001358524.1:p.Leu247TrpfsTer?
NM_001371596.2:c.1021del MANE Select NP_001358525.1:p.Leu341TrpfsTer?
NM_152778.3:c.1021del NP_689991.1:p.Leu341TrpfsTer?
NM_152778.4:c.1021del NP_689991.1:p.Leu341TrpfsTer?