Canonical Allele Identifier: CA2763478997
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127930582_127930583dup , CM000666.2:g.127930582_127930583dup GRCh38
NC_000004.11:g.128851737_128851738dup , CM000666.1:g.128851737_128851738dup GRCh37
NC_000004.10:g.129071187_129071188dup NCBI36
NG_008657.1:g.40408_40409dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.998+106_998+107dup ENSP00000296468.3:n.998+106_998+107dup
ENST00000509826.2:c.*231+106_*231+107dup ENSP00000421176.2:n.*231+106_*231+107dup
ENST00000513559.6:c.716+106_716+107dup ENSP00000425000.2:n.716+106_716+107dup
ENST00000515130.6:c.863+106_863+107dup ENSP00000493056.1:n.863+106_863+107dup
ENST00000641025.1:c.998+106_998+107dup ENSP00000493346.1:n.998+106_998+107dup
ENST00000641092.1:c.797+106_797+107dup ENSP00000493392.1:n.797+106_797+107dup
ENST00000641133.1:c.*312+106_*312+107dup ENSP00000493192.1:n.*312+106_*312+107dup
ENST00000641146.1:n.864+106_864+107dup
ENST00000641147.1:c.548+106_548+107dup ENSP00000493133.1:n.548+106_548+107dup
ENST00000641178.1:c.863+106_863+107dup ENSP00000492989.1:n.863+106_863+107dup
ENST00000641186.1:c.884+106_884+107dup ENSP00000493347.1:n.884+106_884+107dup
ENST00000641228.1:c.797+106_797+107dup ENSP00000493194.1:n.797+106_797+107dup
ENST00000641332.1:c.*163+106_*163+107dup ENSP00000493397.1:n.*163+106_*163+107dup
ENST00000641340.1:c.*231+106_*231+107dup ENSP00000493191.1:n.*231+106_*231+107dup
ENST00000641388.1:n.349+106_349+107dup
ENST00000641393.1:c.548+106_548+107dup ENSP00000493197.1:n.548+106_548+107dup
ENST00000641397.1:c.683+106_683+107dup ENSP00000493406.1:n.683+106_683+107dup
ENST00000641413.1:c.27+106_27+107dup
ENST00000641434.1:c.998+106_998+107dup ENSP00000493279.1:n.998+106_998+107dup
ENST00000641464.1:c.*231+106_*231+107dup ENSP00000493438.1:n.*231+106_*231+107dup
ENST00000641482.1:c.998+106_998+107dup ENSP00000493277.1:n.998+106_998+107dup
ENST00000641508.1:c.*231+106_*231+107dup ENSP00000493209.1:n.*231+106_*231+107dup
ENST00000641509.1:c.683+106_683+107dup ENSP00000493459.1:n.683+106_683+107dup
ENST00000641538.1:c.709+2408_709+2409dup
ENST00000641590.1:c.884+106_884+107dup ENSP00000493132.1:n.884+106_884+107dup
ENST00000641658.1:c.*163+106_*163+107dup ENSP00000492987.1:n.*163+106_*163+107dup
ENST00000641686.2:c.998+106_998+107dup MANE Select ENSP00000493218.2:n.998+106_998+107dup
ENST00000641690.1:c.797+106_797+107dup ENSP00000492966.1:n.797+106_797+107dup
ENST00000641742.1:c.*163+106_*163+107dup ENSP00000493315.1:n.*163+106_*163+107dup
ENST00000641748.1:c.998+106_998+107dup ENSP00000493330.1:n.998+106_998+107dup
ENST00000641753.1:c.825+106_825+107dup
ENST00000641774.1:c.*231+106_*231+107dup ENSP00000492960.1:n.*231+106_*231+107dup
ENST00000641830.1:c.334+106_334+107dup
ENST00000641843.1:c.*163+106_*163+107dup ENSP00000493174.1:n.*163+106_*163+107dup
ENST00000641869.1:c.303+106_303+107dup
ENST00000641870.1:c.*163+106_*163+107dup ENSP00000493044.1:n.*163+106_*163+107dup
ENST00000641882.1:c.*163+106_*163+107dup ENSP00000493301.1:n.*163+106_*163+107dup
ENST00000641928.1:c.*231+106_*231+107dup ENSP00000493418.1:n.*231+106_*231+107dup
ENST00000641949.1:c.554-9741_554-9740dup ENSP00000492891.1:n.554-9741_554-9740dup
ENST00000642012.1:n.862+106_862+107dup
ENST00000642034.1:c.884+106_884+107dup ENSP00000493285.1:n.884+106_884+107dup
ENST00000642042.1:c.998+106_998+107dup ENSP00000493260.1:n.998+106_998+107dup
ENST00000642078.1:c.*163+106_*163+107dup ENSP00000492885.1:n.*163+106_*163+107dup
ENST00000296468.7:c.998+106_998+107dup ENSP00000296468.3:n.998+106_998+107dup
ENST00000505284.5:n.893+106_893+107dup
ENST00000509826.1:c.*231+106_*231+107dup ENSP00000421176.1:n.*231+106_*231+107dup
ENST00000513559.5:c.863+106_863+107dup ENSP00000425000.1:n.863+106_863+107dup
ENST00000515130.5:n.1444+106_1444+107dup
NM_152778.2:c.998+106_998+107dup NP_689991.1:n.998+106_998+107dup
XM_005262893.1:c.998+106_998+107dup XP_005262950.1:n.998+106_998+107dup
XM_005262896.1:c.851+106_851+107dup XP_005262953.1:n.851+106_851+107dup
XM_005262897.1:c.797+106_797+107dup XP_005262954.1:n.797+106_797+107dup
XM_005262898.2:c.998+106_998+107dup XP_005262955.1:n.998+106_998+107dup
XM_011531830.1:c.884+106_884+107dup XP_011530132.1:n.884+106_884+107dup
XM_011531831.1:c.683+106_683+107dup XP_011530133.1:n.683+106_683+107dup
XM_011531832.1:c.884+106_884+107dup XP_011530134.1:n.884+106_884+107dup
XR_938717.1:n.1075+106_1075+107dup
NM_001363520.1:c.797+106_797+107dup NP_001350449.1:n.797+106_797+107dup
NM_001363521.1:c.683+106_683+107dup NP_001350450.1:n.683+106_683+107dup
XM_005262898.3:c.998+106_998+107dup XP_005262955.1:n.998+106_998+107dup
XM_017007989.1:c.797+106_797+107dup XP_016863478.1:n.797+106_797+107dup
XM_024453981.1:c.863+106_863+107dup XP_024309749.1:n.863+106_863+107dup
XM_024453982.1:c.749+106_749+107dup XP_024309750.1:n.749+106_749+107dup
XM_024453983.1:c.548+106_548+107dup XP_024309751.1:n.548+106_548+107dup
XR_001741194.1:n.1075+106_1075+107dup
XR_001741195.1:n.961+106_961+107dup
XR_001741196.1:n.874+106_874+107dup
XR_001741197.1:n.930+106_930+107dup
XR_001741198.2:n.930+106_930+107dup
XR_001741199.1:n.930+106_930+107dup
XR_938717.2:n.1075+106_1075+107dup
NM_001363520.2:c.797+106_797+107dup NP_001350449.1:n.797+106_797+107dup
NM_001363521.2:c.683+106_683+107dup NP_001350450.1:n.683+106_683+107dup
NM_001371590.1:c.863+106_863+107dup NP_001358519.1:n.863+106_863+107dup
NM_001371591.1:c.998+106_998+107dup NP_001358520.1:n.998+106_998+107dup
NM_001371592.1:c.1004+106_1004+107dup NP_001358521.1:n.1004+106_1004+107dup
NM_001371593.1:c.884+106_884+107dup NP_001358522.1:n.884+106_884+107dup
NM_001371594.1:c.851+106_851+107dup NP_001358523.1:n.851+106_851+107dup
NM_001371595.1:c.716+106_716+107dup NP_001358524.1:n.716+106_716+107dup
NM_001371596.2:c.998+106_998+107dup MANE Select NP_001358525.1:n.998+106_998+107dup
NM_152778.3:c.998+106_998+107dup NP_689991.1:n.998+106_998+107dup
NM_152778.4:c.998+106_998+107dup NP_689991.1:n.998+106_998+107dup