Canonical Allele Identifier: CA2763479440
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127938908_127938909insA , CM000666.2:g.127938908_127938909insA GRCh38
NC_000004.11:g.128860063_128860064insA , CM000666.1:g.128860063_128860064insA GRCh37
NC_000004.10:g.129079513_129079514insA NCBI36
NG_008657.1:g.32076_32077insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.699-71_699-70insT ENSP00000296468.3:n.699-71_699-70insT
ENST00000505284.6:n.915-71_915-70insT
ENST00000509826.2:c.698+944_698+945insT ENSP00000421176.2:n.698+944_698+945insT
ENST00000513559.6:c.419-73_419-72insT ENSP00000425000.2:n.419-73_419-72insT
ENST00000515130.6:c.564-71_564-70insT ENSP00000493056.1:n.564-71_564-70insT
ENST00000641025.1:c.699-71_699-70insT ENSP00000493346.1:n.699-71_699-70insT
ENST00000641092.1:c.553+3136_553+3137insT ENSP00000493392.1:n.553+3136_553+3137insT
ENST00000641133.1:c.*13-71_*13-70insT ENSP00000493192.1:n.*13-71_*13-70insT
ENST00000641134.1:c.419-71_419-70insT ENSP00000492925.1:n.419-71_419-70insT
ENST00000641147.1:c.304+4843_304+4844insT ENSP00000493133.1:n.304+4843_304+4844insT
ENST00000641178.1:c.564-71_564-70insT ENSP00000492989.1:n.564-71_564-70insT
ENST00000641186.1:c.585-71_585-70insT ENSP00000493347.1:n.585-71_585-70insT
ENST00000641228.1:c.553+3136_553+3137insT ENSP00000493194.1:n.553+3136_553+3137insT
ENST00000641243.1:c.554-71_554-70insT ENSP00000493083.1:n.554-71_554-70insT
ENST00000641264.1:c.*496-71_*496-70insT ENSP00000492908.1:n.*496-71_*496-70insT
ENST00000641332.1:c.554-71_554-70insT ENSP00000493397.1:n.554-71_554-70insT
ENST00000641340.1:c.698+944_698+945insT ENSP00000493191.1:n.698+944_698+945insT
ENST00000641369.1:c.195-71_195-70insT ENSP00000493037.1:n.195-71_195-70insT
ENST00000641393.1:c.304+4843_304+4844insT ENSP00000493197.1:n.304+4843_304+4844insT
ENST00000641397.1:c.439+4843_439+4844insT ENSP00000493406.1:n.439+4843_439+4844insT
ENST00000641434.1:c.699-71_699-70insT ENSP00000493279.1:n.699-71_699-70insT
ENST00000641464.1:c.449+944_449+945insT ENSP00000493438.1:n.449+944_449+945insT
ENST00000641482.1:c.699-71_699-70insT ENSP00000493277.1:n.699-71_699-70insT
ENST00000641503.1:c.585-71_585-70insT ENSP00000493304.1:n.585-71_585-70insT
ENST00000641508.1:c.698+944_698+945insT ENSP00000493209.1:n.698+944_698+945insT
ENST00000641509.1:c.439+4843_439+4844insT ENSP00000493459.1:n.439+4843_439+4844insT
ENST00000641538.1:c.545-71_545-70insT
ENST00000641590.1:c.585-71_585-70insT ENSP00000493132.1:n.585-71_585-70insT
ENST00000641658.1:c.419-71_419-70insT ENSP00000492987.1:n.419-71_419-70insT
ENST00000641686.2:c.699-71_699-70insT MANE Select ENSP00000493218.2:n.699-71_699-70insT
ENST00000641690.1:c.553+3136_553+3137insT ENSP00000492966.1:n.553+3136_553+3137insT
ENST00000641695.1:c.699-73_699-72insT ENSP00000493134.1:n.699-73_699-72insT
ENST00000641742.1:c.554-71_554-70insT ENSP00000493315.1:n.554-71_554-70insT
ENST00000641743.1:c.699-71_699-70insT ENSP00000493130.1:n.699-71_699-70insT
ENST00000641748.1:c.699-71_699-70insT ENSP00000493330.1:n.699-71_699-70insT
ENST00000641753.1:c.526-71_526-70insT
ENST00000641774.1:c.584+944_584+945insT ENSP00000492960.1:n.584+944_584+945insT
ENST00000641776.1:c.*251-71_*251-70insT ENSP00000493261.1:n.*251-71_*251-70insT
ENST00000641830.1:c.35-71_35-70insT
ENST00000641843.1:c.305-71_305-70insT ENSP00000493174.1:n.305-71_305-70insT
ENST00000641869.1:c.4-71_4-70insT
ENST00000641870.1:c.554-71_554-70insT ENSP00000493044.1:n.554-71_554-70insT
ENST00000641882.1:c.440-71_440-70insT ENSP00000493301.1:n.440-71_440-70insT
ENST00000641928.1:c.449+944_449+945insT ENSP00000493418.1:n.449+944_449+945insT
ENST00000641949.1:c.553+3136_553+3137insT ENSP00000492891.1:n.553+3136_553+3137insT
ENST00000642012.1:n.492_493insT
ENST00000642034.1:c.585-71_585-70insT ENSP00000493285.1:n.585-71_585-70insT
ENST00000642042.1:c.699-71_699-70insT ENSP00000493260.1:n.699-71_699-70insT
ENST00000642078.1:c.419-71_419-70insT ENSP00000492885.1:n.419-71_419-70insT
ENST00000642121.1:n.91-8092_91-8091insT
ENST00000296468.7:c.699-71_699-70insT ENSP00000296468.3:n.699-71_699-70insT
ENST00000505284.5:n.594-71_594-70insT
ENST00000508441.1:n.566-71_566-70insT
ENST00000509826.1:c.449+944_449+945insT ENSP00000421176.1:n.449+944_449+945insT
ENST00000513559.5:c.564-71_564-70insT ENSP00000425000.1:n.564-71_564-70insT
ENST00000515130.5:n.1145-71_1145-70insT
NM_152778.2:c.699-71_699-70insT NP_689991.1:n.699-71_699-70insT
XM_005262893.1:c.699-71_699-70insT XP_005262950.1:n.699-71_699-70insT
XM_005262896.1:c.554-73_554-72insT XP_005262953.1:n.554-73_554-72insT
XM_005262897.1:c.553+3136_553+3137insT XP_005262954.1:n.553+3136_553+3137insT
XM_005262898.2:c.699-71_699-70insT XP_005262955.1:n.699-71_699-70insT
XM_005262900.2:c.554-71_554-70insT XP_005262957.1:n.554-71_554-70insT
XM_011531830.1:c.585-71_585-70insT XP_011530132.1:n.585-71_585-70insT
XM_011531831.1:c.439+4843_439+4844insT XP_011530133.1:n.439+4843_439+4844insT
XM_011531832.1:c.585-71_585-70insT XP_011530134.1:n.585-71_585-70insT
XR_938717.1:n.776-71_776-70insT
NM_001363520.1:c.553+3136_553+3137insT NP_001350449.1:n.553+3136_553+3137insT
NM_001363521.1:c.439+4843_439+4844insT NP_001350450.1:n.439+4843_439+4844insT
XM_005262898.3:c.699-71_699-70insT XP_005262955.1:n.699-71_699-70insT
XM_017007989.1:c.553+3136_553+3137insT XP_016863478.1:n.553+3136_553+3137insT
XM_024453981.1:c.564-71_564-70insT XP_024309749.1:n.564-71_564-70insT
XM_024453982.1:c.450-71_450-70insT XP_024309750.1:n.450-71_450-70insT
XM_024453983.1:c.304+4843_304+4844insT XP_024309751.1:n.304+4843_304+4844insT
XR_001741194.1:n.776-71_776-70insT
XR_001741195.1:n.662-71_662-70insT
XR_001741196.1:n.630+3136_630+3137insT
XR_001741197.1:n.631-71_631-70insT
XR_001741198.2:n.631-71_631-70insT
XR_001741199.1:n.631-71_631-70insT
XR_938717.2:n.776-71_776-70insT
NM_001363520.2:c.553+3136_553+3137insT NP_001350449.1:n.553+3136_553+3137insT
NM_001363521.2:c.439+4843_439+4844insT NP_001350450.1:n.439+4843_439+4844insT
NM_001371590.1:c.564-71_564-70insT NP_001358519.1:n.564-71_564-70insT
NM_001371591.1:c.699-71_699-70insT NP_001358520.1:n.699-71_699-70insT
NM_001371592.1:c.705-71_705-70insT NP_001358521.1:n.705-71_705-70insT
NM_001371593.1:c.585-71_585-70insT NP_001358522.1:n.585-71_585-70insT
NM_001371594.1:c.554-73_554-72insT NP_001358523.1:n.554-73_554-72insT
NM_001371595.1:c.419-73_419-72insT NP_001358524.1:n.419-73_419-72insT
NM_001371596.2:c.699-71_699-70insT MANE Select NP_001358525.1:n.699-71_699-70insT
NM_152778.3:c.699-71_699-70insT NP_689991.1:n.699-71_699-70insT
NM_152778.4:c.699-71_699-70insT NP_689991.1:n.699-71_699-70insT