Canonical Allele Identifier: CA2578192984
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127930653_127930657del , CM000666.2:g.127930653_127930657del GRCh38
NC_000004.11:g.128851808_128851812del , CM000666.1:g.128851808_128851812del GRCh37
NC_000004.10:g.129071258_129071262del NCBI36
NG_008657.1:g.40328_40332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.998+26_998+30del ENSP00000296468.3:n.998+26_998+30del
ENST00000509826.2:c.*231+26_*231+30del ENSP00000421176.2:n.*231+26_*231+30del
ENST00000513559.6:c.716+26_716+30del ENSP00000425000.2:n.716+26_716+30del
ENST00000515130.6:c.863+26_863+30del ENSP00000493056.1:n.863+26_863+30del
ENST00000641025.1:c.998+26_998+30del ENSP00000493346.1:n.998+26_998+30del
ENST00000641092.1:c.797+26_797+30del ENSP00000493392.1:n.797+26_797+30del
ENST00000641133.1:c.*312+26_*312+30del ENSP00000493192.1:n.*312+26_*312+30del
ENST00000641146.1:n.864+26_864+30del
ENST00000641147.1:c.548+26_548+30del ENSP00000493133.1:n.548+26_548+30del
ENST00000641178.1:c.863+26_863+30del ENSP00000492989.1:n.863+26_863+30del
ENST00000641186.1:c.884+26_884+30del ENSP00000493347.1:n.884+26_884+30del
ENST00000641228.1:c.797+26_797+30del ENSP00000493194.1:n.797+26_797+30del
ENST00000641332.1:c.*163+26_*163+30del ENSP00000493397.1:n.*163+26_*163+30del
ENST00000641340.1:c.*231+26_*231+30del ENSP00000493191.1:n.*231+26_*231+30del
ENST00000641388.1:n.349+26_349+30del
ENST00000641393.1:c.548+26_548+30del ENSP00000493197.1:n.548+26_548+30del
ENST00000641397.1:c.683+26_683+30del ENSP00000493406.1:n.683+26_683+30del
ENST00000641413.1:c.27+26_27+30del
ENST00000641434.1:c.998+26_998+30del ENSP00000493279.1:n.998+26_998+30del
ENST00000641464.1:c.*231+26_*231+30del ENSP00000493438.1:n.*231+26_*231+30del
ENST00000641482.1:c.998+26_998+30del ENSP00000493277.1:n.998+26_998+30del
ENST00000641508.1:c.*231+26_*231+30del ENSP00000493209.1:n.*231+26_*231+30del
ENST00000641509.1:c.683+26_683+30del ENSP00000493459.1:n.683+26_683+30del
ENST00000641538.1:c.709+2328_709+2332del
ENST00000641590.1:c.884+26_884+30del ENSP00000493132.1:n.884+26_884+30del
ENST00000641658.1:c.*163+26_*163+30del ENSP00000492987.1:n.*163+26_*163+30del
ENST00000641686.2:c.998+26_998+30del MANE Select ENSP00000493218.2:n.998+26_998+30del
ENST00000641690.1:c.797+26_797+30del ENSP00000492966.1:n.797+26_797+30del
ENST00000641742.1:c.*163+26_*163+30del ENSP00000493315.1:n.*163+26_*163+30del
ENST00000641748.1:c.998+26_998+30del ENSP00000493330.1:n.998+26_998+30del
ENST00000641753.1:c.825+26_825+30del
ENST00000641774.1:c.*231+26_*231+30del ENSP00000492960.1:n.*231+26_*231+30del
ENST00000641830.1:c.334+26_334+30del
ENST00000641843.1:c.*163+26_*163+30del ENSP00000493174.1:n.*163+26_*163+30del
ENST00000641869.1:c.303+26_303+30del
ENST00000641870.1:c.*163+26_*163+30del ENSP00000493044.1:n.*163+26_*163+30del
ENST00000641882.1:c.*163+26_*163+30del ENSP00000493301.1:n.*163+26_*163+30del
ENST00000641928.1:c.*231+26_*231+30del ENSP00000493418.1:n.*231+26_*231+30del
ENST00000641949.1:c.554-9821_554-9817del ENSP00000492891.1:n.554-9821_554-9817del
ENST00000642012.1:n.862+26_862+30del
ENST00000642034.1:c.884+26_884+30del ENSP00000493285.1:n.884+26_884+30del
ENST00000642042.1:c.998+26_998+30del ENSP00000493260.1:n.998+26_998+30del
ENST00000642078.1:c.*163+26_*163+30del ENSP00000492885.1:n.*163+26_*163+30del
ENST00000296468.7:c.998+26_998+30del ENSP00000296468.3:n.998+26_998+30del
ENST00000505284.5:n.893+26_893+30del
ENST00000509826.1:c.*231+26_*231+30del ENSP00000421176.1:n.*231+26_*231+30del
ENST00000513559.5:c.863+26_863+30del ENSP00000425000.1:n.863+26_863+30del
ENST00000515130.5:n.1444+26_1444+30del
NM_152778.2:c.998+26_998+30del NP_689991.1:n.998+26_998+30del
XM_005262893.1:c.998+26_998+30del XP_005262950.1:n.998+26_998+30del
XM_005262896.1:c.851+26_851+30del XP_005262953.1:n.851+26_851+30del
XM_005262897.1:c.797+26_797+30del XP_005262954.1:n.797+26_797+30del
XM_005262898.2:c.998+26_998+30del XP_005262955.1:n.998+26_998+30del
XM_011531830.1:c.884+26_884+30del XP_011530132.1:n.884+26_884+30del
XM_011531831.1:c.683+26_683+30del XP_011530133.1:n.683+26_683+30del
XM_011531832.1:c.884+26_884+30del XP_011530134.1:n.884+26_884+30del
XR_938717.1:n.1075+26_1075+30del
NM_001363520.1:c.797+26_797+30del NP_001350449.1:n.797+26_797+30del
NM_001363521.1:c.683+26_683+30del NP_001350450.1:n.683+26_683+30del
XM_005262898.3:c.998+26_998+30del XP_005262955.1:n.998+26_998+30del
XM_017007989.1:c.797+26_797+30del XP_016863478.1:n.797+26_797+30del
XM_024453981.1:c.863+26_863+30del XP_024309749.1:n.863+26_863+30del
XM_024453982.1:c.749+26_749+30del XP_024309750.1:n.749+26_749+30del
XM_024453983.1:c.548+26_548+30del XP_024309751.1:n.548+26_548+30del
XR_001741194.1:n.1075+26_1075+30del
XR_001741195.1:n.961+26_961+30del
XR_001741196.1:n.874+26_874+30del
XR_001741197.1:n.930+26_930+30del
XR_001741198.2:n.930+26_930+30del
XR_001741199.1:n.930+26_930+30del
XR_938717.2:n.1075+26_1075+30del
NM_001363520.2:c.797+26_797+30del NP_001350449.1:n.797+26_797+30del
NM_001363521.2:c.683+26_683+30del NP_001350450.1:n.683+26_683+30del
NM_001371590.1:c.863+26_863+30del NP_001358519.1:n.863+26_863+30del
NM_001371591.1:c.998+26_998+30del NP_001358520.1:n.998+26_998+30del
NM_001371592.1:c.1004+26_1004+30del NP_001358521.1:n.1004+26_1004+30del
NM_001371593.1:c.884+26_884+30del NP_001358522.1:n.884+26_884+30del
NM_001371594.1:c.851+26_851+30del NP_001358523.1:n.851+26_851+30del
NM_001371595.1:c.716+26_716+30del NP_001358524.1:n.716+26_716+30del
NM_001371596.2:c.998+26_998+30del MANE Select NP_001358525.1:n.998+26_998+30del
NM_152778.3:c.998+26_998+30del NP_689991.1:n.998+26_998+30del
NM_152778.4:c.998+26_998+30del NP_689991.1:n.998+26_998+30del