Canonical Allele Identifier: CA1492804304
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921749_127921750delinsAG , CM000666.2:g.127921749_127921750delinsAG GRCh38
NC_000004.11:g.128842904_128842905delinsAG , CM000666.1:g.128842904_128842905delinsAG GRCh37
NC_000004.10:g.129062354_129062355delinsAG NCBI36
NG_008657.1:g.49235_49236delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1124_1125delinsCT ENSP00000296468.3:p.Pro375=
ENST00000509826.2:c.*445_*446delinsCT ENSP00000421176.2:n.*445_*446delinsCT
ENST00000513559.6:c.842_843delinsCT ENSP00000425000.2:p.Pro281=
ENST00000515130.6:c.*9_*10delinsCT ENSP00000493056.1:n.*9_*10delinsCT
ENST00000641025.1:c.*9_*10delinsCT ENSP00000493346.1:n.*9_*10delinsCT
ENST00000641092.1:c.*9_*10delinsCT ENSP00000493392.1:n.*9_*10delinsCT
ENST00000641133.1:c.*438_*439delinsCT ENSP00000493192.1:n.*438_*439delinsCT
ENST00000641146.1:n.990_991delinsCT
ENST00000641147.1:c.674_675delinsCT ENSP00000493133.1:p.Pro225=
ENST00000641178.1:c.989_990delinsCT ENSP00000492989.1:p.Pro330=
ENST00000641186.1:c.1010_1011delinsCT ENSP00000493347.1:p.Pro337=
ENST00000641228.1:c.*9_*10delinsCT ENSP00000493194.1:n.*9_*10delinsCT
ENST00000641332.1:c.*185_*186delinsCT ENSP00000493397.1:n.*185_*186delinsCT
ENST00000641340.1:c.*253_*254delinsCT ENSP00000493191.1:n.*253_*254delinsCT
ENST00000641388.1:n.371_372delinsCT
ENST00000641393.1:c.674_675delinsCT ENSP00000493197.1:p.Pro225=
ENST00000641397.1:c.*9_*10delinsCT ENSP00000493406.1:n.*9_*10delinsCT
ENST00000641413.1:c.49_50delinsCT
ENST00000641434.1:c.1124_1125delinsCT ENSP00000493279.1:p.Pro375=
ENST00000641464.1:c.*357_*358delinsCT ENSP00000493438.1:n.*357_*358delinsCT
ENST00000641482.1:c.*9_*10delinsCT ENSP00000493277.1:n.*9_*10delinsCT
ENST00000641508.1:c.*357_*358delinsCT ENSP00000493209.1:n.*357_*358delinsCT
ENST00000641509.1:c.809_810delinsCT ENSP00000493459.1:p.Pro270=
ENST00000641590.1:c.*9_*10delinsCT ENSP00000493132.1:n.*9_*10delinsCT
ENST00000641658.1:c.*289_*290delinsCT ENSP00000492987.1:n.*289_*290delinsCT
ENST00000641686.2:c.1124_1125delinsCT MANE Select ENSP00000493218.2:p.Pro375=
ENST00000641690.1:c.923_924delinsCT ENSP00000492966.1:p.Pro308=
ENST00000641742.1:c.*289_*290delinsCT ENSP00000493315.1:n.*289_*290delinsCT
ENST00000641748.1:c.1124_1125delinsCT ENSP00000493330.1:p.Pro375=
ENST00000641753.1:c.951_952delinsCT
ENST00000641774.1:c.*376_*377delinsCT ENSP00000492960.1:n.*376_*377delinsCT
ENST00000641830.1:c.356_357delinsCT
ENST00000641843.1:c.*185_*186delinsCT ENSP00000493174.1:n.*185_*186delinsCT
ENST00000641869.1:c.325_326delinsCT
ENST00000641870.1:c.*185_*186delinsCT ENSP00000493044.1:n.*185_*186delinsCT
ENST00000641882.1:c.*289_*290delinsCT ENSP00000493301.1:n.*289_*290delinsCT
ENST00000641928.1:c.*253_*254delinsCT ENSP00000493418.1:n.*253_*254delinsCT
ENST00000641949.1:c.554-914_554-913delinsCT ENSP00000492891.1:n.554-914_554-913delinsCT
ENST00000642012.1:n.988_989delinsCT
ENST00000642034.1:c.*9_*10delinsCT ENSP00000493285.1:n.*9_*10delinsCT
ENST00000642042.1:c.1124_1125delinsCT ENSP00000493260.1:p.Pro375=
ENST00000642078.1:c.*185_*186delinsCT ENSP00000492885.1:n.*185_*186delinsCT
ENST00000296468.7:c.1124_1125delinsCT ENSP00000296468.3:p.Pro375=
ENST00000504126.1:n.152_153delinsCT
ENST00000505284.5:n.915_916delinsCT
ENST00000513559.5:c.989_990delinsCT ENSP00000425000.1:p.Pro330=
ENST00000515130.5:n.1466_1467delinsCT
NM_152778.2:c.1124_1125delinsCT NP_689991.1:p.Pro375=
XM_005262893.1:c.1124_1125delinsCT XP_005262950.1:p.Pro375=
XM_005262896.1:c.977_978delinsCT XP_005262953.1:p.Pro326=
XM_005262897.1:c.923_924delinsCT XP_005262954.1:p.Pro308=
XM_005262898.2:c.*9_*10delinsCT XP_005262955.1:n.*9_*10delinsCT
XM_011531830.1:c.1010_1011delinsCT XP_011530132.1:p.Pro337=
XM_011531831.1:c.809_810delinsCT XP_011530133.1:p.Pro270=
XM_011531832.1:c.*9_*10delinsCT XP_011530134.1:n.*9_*10delinsCT
XR_938717.1:n.1201_1202delinsCT
NM_001363520.1:c.923_924delinsCT NP_001350449.1:p.Pro308=
NM_001363521.1:c.809_810delinsCT NP_001350450.1:p.Pro270=
XM_005262898.3:c.*9_*10delinsCT XP_005262955.1:n.*9_*10delinsCT
XM_017007989.1:c.*9_*10delinsCT XP_016863478.1:n.*9_*10delinsCT
XM_024453981.1:c.989_990delinsCT XP_024309749.1:p.Pro330=
XM_024453982.1:c.875_876delinsCT XP_024309750.1:p.Pro292=
XM_024453983.1:c.674_675delinsCT XP_024309751.1:p.Pro225=
XR_001741194.1:n.1097_1098delinsCT
XR_001741195.1:n.983_984delinsCT
XR_001741196.1:n.896_897delinsCT
XR_001741197.1:n.1056_1057delinsCT
XR_001741198.2:n.952_953delinsCT
XR_001741199.1:n.952_953delinsCT
XR_938717.2:n.1201_1202delinsCT
NM_001363520.2:c.923_924delinsCT NP_001350449.1:p.Pro308=
NM_001363521.2:c.809_810delinsCT NP_001350450.1:p.Pro270=
NM_001371590.1:c.989_990delinsCT NP_001358519.1:p.Pro330=
NM_001371591.1:c.1124_1125delinsCT NP_001358520.1:p.Pro375=
NM_001371592.1:c.1130_1131delinsCT NP_001358521.1:p.Pro377=
NM_001371593.1:c.1010_1011delinsCT NP_001358522.1:p.Pro337=
NM_001371594.1:c.977_978delinsCT NP_001358523.1:p.Pro326=
NM_001371595.1:c.842_843delinsCT NP_001358524.1:p.Pro281=
NM_001371596.2:c.1124_1125delinsCT MANE Select NP_001358525.1:p.Pro375=
NM_152778.3:c.1124_1125delinsCT NP_689991.1:p.Pro375=
NM_152778.4:c.1124_1125delinsCT NP_689991.1:p.Pro375=