Canonical Allele Identifier: CA2695203832
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921536del , CM000666.2:g.127921536del GRCh38
NC_000004.11:g.128842691del , CM000666.1:g.128842691del GRCh37
NC_000004.10:g.129062141del NCBI36
NG_008657.1:g.49449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1338del ENSP00000296468.3:p.Pro447GlnfsTer11
ENST00000509826.2:c.*659del ENSP00000421176.2:n.*659del
ENST00000513559.6:c.1056del ENSP00000425000.2:p.Pro353GlnfsTer11
ENST00000515130.6:c.*223del ENSP00000493056.1:n.*223del
ENST00000641025.1:c.*223del ENSP00000493346.1:n.*223del
ENST00000641092.1:c.*223del ENSP00000493392.1:n.*223del
ENST00000641133.1:c.*652del ENSP00000493192.1:n.*652del
ENST00000641146.1:n.1204del
ENST00000641147.1:c.888del ENSP00000493133.1:p.Pro297GlnfsTer11
ENST00000641178.1:c.1203del ENSP00000492989.1:p.Pro402GlnfsTer11
ENST00000641186.1:c.1224del ENSP00000493347.1:p.Pro409GlnfsTer11
ENST00000641228.1:c.*223del ENSP00000493194.1:n.*223del
ENST00000641332.1:c.*399del ENSP00000493397.1:n.*399del
ENST00000641340.1:c.*467del ENSP00000493191.1:n.*467del
ENST00000641388.1:n.585del
ENST00000641393.1:c.888del ENSP00000493197.1:p.Pro297GlnfsTer11
ENST00000641397.1:c.*223del ENSP00000493406.1:n.*223del
ENST00000641413.1:c.263del
ENST00000641434.1:c.1338del ENSP00000493279.1:p.Pro447GlnfsTer11
ENST00000641464.1:c.*571del ENSP00000493438.1:n.*571del
ENST00000641482.1:c.*223del ENSP00000493277.1:n.*223del
ENST00000641508.1:c.*571del ENSP00000493209.1:n.*571del
ENST00000641509.1:c.1023del ENSP00000493459.1:p.Pro342GlnfsTer11
ENST00000641590.1:c.*223del ENSP00000493132.1:n.*223del
ENST00000641658.1:c.*503del ENSP00000492987.1:n.*503del
ENST00000641686.2:c.1338del MANE Select ENSP00000493218.2:p.Pro447GlnfsTer11
ENST00000641690.1:c.1137del ENSP00000492966.1:p.Pro380GlnfsTer11
ENST00000641742.1:c.*503del ENSP00000493315.1:n.*503del
ENST00000641748.1:c.1338del ENSP00000493330.1:p.Pro447GlnfsTer11
ENST00000641753.1:c.1165del
ENST00000641774.1:c.*590del ENSP00000492960.1:n.*590del
ENST00000641830.1:c.570del
ENST00000641843.1:c.*399del ENSP00000493174.1:n.*399del
ENST00000641869.1:c.539del
ENST00000641870.1:c.*399del ENSP00000493044.1:n.*399del
ENST00000641882.1:c.*503del ENSP00000493301.1:n.*503del
ENST00000641928.1:c.*467del ENSP00000493418.1:n.*467del
ENST00000641949.1:c.554-700del ENSP00000492891.1:n.554-700del
ENST00000642012.1:n.1202del
ENST00000642034.1:c.*223del ENSP00000493285.1:n.*223del
ENST00000642042.1:c.1338del ENSP00000493260.1:p.Pro447GlnfsTer5
ENST00000642078.1:c.*399del ENSP00000492885.1:n.*399del
ENST00000296468.7:c.1338del ENSP00000296468.3:p.Pro447GlnfsTer11
ENST00000504126.1:n.366del
ENST00000513559.5:c.1203del ENSP00000425000.1:p.Pro402GlnfsTer11
ENST00000515130.5:n.1680del
NM_152778.2:c.1338del NP_689991.1:p.Pro447GlnfsTer11
XM_005262893.1:c.1338del XP_005262950.1:p.Pro447GlnfsTer11
XM_005262896.1:c.1191del XP_005262953.1:p.Pro398GlnfsTer11
XM_005262897.1:c.1137del XP_005262954.1:p.Pro380GlnfsTer11
XM_005262898.2:c.*223del XP_005262955.1:n.*223del
XM_011531830.1:c.1224del XP_011530132.1:p.Pro409GlnfsTer11
XM_011531831.1:c.1023del XP_011530133.1:p.Pro342GlnfsTer11
XM_011531832.1:c.*223del XP_011530134.1:n.*223del
XR_938717.1:n.1415del
NM_001363520.1:c.1137del NP_001350449.1:p.Pro380GlnfsTer11
NM_001363521.1:c.1023del NP_001350450.1:p.Pro342GlnfsTer11
XM_005262898.3:c.*223del XP_005262955.1:n.*223del
XM_017007989.1:c.*223del XP_016863478.1:n.*223del
XM_024453981.1:c.1203del XP_024309749.1:p.Pro402GlnfsTer11
XM_024453982.1:c.1089del XP_024309750.1:p.Pro364GlnfsTer11
XM_024453983.1:c.888del XP_024309751.1:p.Pro297GlnfsTer11
XR_001741194.1:n.1311del
XR_001741195.1:n.1197del
XR_001741196.1:n.1110del
XR_001741197.1:n.1270del
XR_001741198.2:n.1166del
XR_001741199.1:n.1166del
XR_938717.2:n.1415del
NM_001363520.2:c.1137del NP_001350449.1:p.Pro380GlnfsTer11
NM_001363521.2:c.1023del NP_001350450.1:p.Pro342GlnfsTer11
NM_001371590.1:c.1203del NP_001358519.1:p.Pro402GlnfsTer11
NM_001371591.1:c.1338del NP_001358520.1:p.Pro447GlnfsTer5
NM_001371592.1:c.1344del NP_001358521.1:p.Pro449GlnfsTer11
NM_001371593.1:c.1224del NP_001358522.1:p.Pro409GlnfsTer11
NM_001371594.1:c.1191del NP_001358523.1:p.Pro398GlnfsTer11
NM_001371595.1:c.1056del NP_001358524.1:p.Pro353GlnfsTer11
NM_001371596.2:c.1338del MANE Select NP_001358525.1:p.Pro447GlnfsTer11
NM_152778.3:c.1338del NP_689991.1:p.Pro447GlnfsTer11
NM_152778.4:c.1338del NP_689991.1:p.Pro447GlnfsTer11