Canonical Allele Identifier: CA2578192990
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127930681_127930684del , CM000666.2:g.127930681_127930684del GRCh38
NC_000004.11:g.128851836_128851839del , CM000666.1:g.128851836_128851839del GRCh37
NC_000004.10:g.129071286_129071289del NCBI36
NG_008657.1:g.40305_40308del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.998+3_998+6del
ENST00000509826.2:c.*231+3_*231+6del
ENST00000513559.6:c.716+3_716+6del
ENST00000515130.6:c.863+3_863+6del
ENST00000641003.1:n.391_394del
ENST00000641025.1:c.998+3_998+6del
ENST00000641092.1:c.797+3_797+6del
ENST00000641133.1:c.*312+3_*312+6del
ENST00000641146.1:n.864+3_864+6del
ENST00000641147.1:c.548+3_548+6del
ENST00000641178.1:c.863+3_863+6del
ENST00000641186.1:c.884+3_884+6del
ENST00000641228.1:c.797+3_797+6del
ENST00000641332.1:c.*163+3_*163+6del
ENST00000641340.1:c.*231+3_*231+6del
ENST00000641388.1:n.349+3_349+6del
ENST00000641393.1:c.548+3_548+6del
ENST00000641397.1:c.683+3_683+6del
ENST00000641413.1:c.27+3_27+6del
ENST00000641434.1:c.998+3_998+6del
ENST00000641464.1:c.*231+3_*231+6del
ENST00000641482.1:c.998+3_998+6del
ENST00000641508.1:c.*231+3_*231+6del
ENST00000641509.1:c.683+3_683+6del
ENST00000641538.1:c.709+2305_709+2308del
ENST00000641590.1:c.884+3_884+6del
ENST00000641658.1:c.*163+3_*163+6del
ENST00000641686.2:c.998+3_998+6del
ENST00000641690.1:c.797+3_797+6del
ENST00000641742.1:c.*163+3_*163+6del
ENST00000641748.1:c.998+3_998+6del
ENST00000641753.1:c.825+3_825+6del
ENST00000641774.1:c.*231+3_*231+6del
ENST00000641830.1:c.334+3_334+6del
ENST00000641843.1:c.*163+3_*163+6del
ENST00000641869.1:c.303+3_303+6del
ENST00000641870.1:c.*163+3_*163+6del
ENST00000641882.1:c.*163+3_*163+6del
ENST00000641928.1:c.*231+3_*231+6del
ENST00000641949.1:c.554-9844_554-9841del ENSP00000492891.1:n.554-9844_554-9841del
ENST00000642012.1:n.862+3_862+6del
ENST00000642034.1:c.884+3_884+6del
ENST00000642042.1:c.998+3_998+6del
ENST00000642078.1:c.*163+3_*163+6del
ENST00000296468.7:c.998+3_998+6del
ENST00000505284.5:n.893+3_893+6del
ENST00000509826.1:c.*231+3_*231+6del
ENST00000513559.5:c.863+3_863+6del
ENST00000515130.5:n.1444+3_1444+6del
NM_152778.2:c.998+3_998+6del
XM_005262893.1:c.998+3_998+6del
XM_005262896.1:c.851+3_851+6del
XM_005262897.1:c.797+3_797+6del
XM_005262898.2:c.998+3_998+6del
XM_011531830.1:c.884+3_884+6del
XM_011531831.1:c.683+3_683+6del
XM_011531832.1:c.884+3_884+6del
XR_938717.1:n.1075+3_1075+6del
NM_001363520.1:c.797+3_797+6del
NM_001363521.1:c.683+3_683+6del
XM_005262898.3:c.998+3_998+6del
XM_017007989.1:c.797+3_797+6del
XM_024453981.1:c.863+3_863+6del
XM_024453982.1:c.749+3_749+6del
XM_024453983.1:c.548+3_548+6del
XR_001741194.1:n.1075+3_1075+6del
XR_001741195.1:n.961+3_961+6del
XR_001741196.1:n.874+3_874+6del
XR_001741197.1:n.930+3_930+6del
XR_001741198.2:n.930+3_930+6del
XR_001741199.1:n.930+3_930+6del
XR_938717.2:n.1075+3_1075+6del
NM_001363520.2:c.797+3_797+6del
NM_001363521.2:c.683+3_683+6del
NM_001371590.1:c.863+3_863+6del
NM_001371591.1:c.998+3_998+6del
NM_001371592.1:c.1004+3_1004+6del
NM_001371593.1:c.884+3_884+6del
NM_001371594.1:c.851+3_851+6del
NM_001371595.1:c.716+3_716+6del
NM_001371596.2:c.998+3_998+6del
NM_152778.3:c.998+3_998+6del
NM_152778.4:c.998+3_998+6del