Canonical Allele Identifier: CA2763478552
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921753_127921754insAGG , CM000666.2:g.127921753_127921754insAGG GRCh38
NC_000004.11:g.128842908_128842909insAGG , CM000666.1:g.128842908_128842909insAGG GRCh37
NC_000004.10:g.129062358_129062359insAGG NCBI36
NG_008657.1:g.49231_49232insCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1120_1121insCCT ENSP00000296468.3:p.Ile374delinsThrPhe
ENST00000509826.2:c.*441_*442insCCT ENSP00000421176.2:n.*441_*442insCCT
ENST00000513559.6:c.838_839insCCT ENSP00000425000.2:p.Ile280delinsThrPhe
ENST00000515130.6:c.*5_*6insCCT ENSP00000493056.1:n.*5_*6insCCT
ENST00000641025.1:c.*5_*6insCCT ENSP00000493346.1:n.*5_*6insCCT
ENST00000641092.1:c.*5_*6insCCT ENSP00000493392.1:n.*5_*6insCCT
ENST00000641133.1:c.*434_*435insCCT ENSP00000493192.1:n.*434_*435insCCT
ENST00000641146.1:n.986_987insCCT
ENST00000641147.1:c.670_671insCCT ENSP00000493133.1:p.Ile224delinsThrPhe
ENST00000641178.1:c.985_986insCCT ENSP00000492989.1:p.Ile329delinsThrPhe
ENST00000641186.1:c.1006_1007insCCT ENSP00000493347.1:p.Ile336delinsThrPhe
ENST00000641228.1:c.*5_*6insCCT ENSP00000493194.1:n.*5_*6insCCT
ENST00000641332.1:c.*181_*182insCCT ENSP00000493397.1:n.*181_*182insCCT
ENST00000641340.1:c.*249_*250insCCT ENSP00000493191.1:n.*249_*250insCCT
ENST00000641388.1:n.367_368insCCT
ENST00000641393.1:c.670_671insCCT ENSP00000493197.1:p.Ile224delinsThrPhe
ENST00000641397.1:c.*5_*6insCCT ENSP00000493406.1:n.*5_*6insCCT
ENST00000641413.1:c.45_46insCCT
ENST00000641434.1:c.1120_1121insCCT ENSP00000493279.1:p.Ile374delinsThrPhe
ENST00000641464.1:c.*353_*354insCCT ENSP00000493438.1:n.*353_*354insCCT
ENST00000641482.1:c.*5_*6insCCT ENSP00000493277.1:n.*5_*6insCCT
ENST00000641508.1:c.*353_*354insCCT ENSP00000493209.1:n.*353_*354insCCT
ENST00000641509.1:c.805_806insCCT ENSP00000493459.1:p.Ile269delinsThrPhe
ENST00000641590.1:c.*5_*6insCCT ENSP00000493132.1:n.*5_*6insCCT
ENST00000641658.1:c.*285_*286insCCT ENSP00000492987.1:n.*285_*286insCCT
ENST00000641686.2:c.1120_1121insCCT MANE Select ENSP00000493218.2:p.Ile374delinsThrPhe
ENST00000641690.1:c.919_920insCCT ENSP00000492966.1:p.Ile307delinsThrPhe
ENST00000641742.1:c.*285_*286insCCT ENSP00000493315.1:n.*285_*286insCCT
ENST00000641748.1:c.1120_1121insCCT ENSP00000493330.1:p.Ile374delinsThrPhe
ENST00000641753.1:c.947_948insCCT
ENST00000641774.1:c.*372_*373insCCT ENSP00000492960.1:n.*372_*373insCCT
ENST00000641830.1:c.352_353insCCT
ENST00000641843.1:c.*181_*182insCCT ENSP00000493174.1:n.*181_*182insCCT
ENST00000641869.1:c.321_322insCCT
ENST00000641870.1:c.*181_*182insCCT ENSP00000493044.1:n.*181_*182insCCT
ENST00000641882.1:c.*285_*286insCCT ENSP00000493301.1:n.*285_*286insCCT
ENST00000641928.1:c.*249_*250insCCT ENSP00000493418.1:n.*249_*250insCCT
ENST00000641949.1:c.554-918_554-917insCCT ENSP00000492891.1:n.554-918_554-917insCCT
ENST00000642012.1:n.984_985insCCT
ENST00000642034.1:c.*5_*6insCCT ENSP00000493285.1:n.*5_*6insCCT
ENST00000642042.1:c.1120_1121insCCT ENSP00000493260.1:p.Ile374delinsThrPhe
ENST00000642078.1:c.*181_*182insCCT ENSP00000492885.1:n.*181_*182insCCT
ENST00000296468.7:c.1120_1121insCCT ENSP00000296468.3:p.Ile374delinsThrPhe
ENST00000504126.1:n.148_149insCCT
ENST00000505284.5:n.911_912insCCT
ENST00000513559.5:c.985_986insCCT ENSP00000425000.1:p.Ile329delinsThrPhe
ENST00000515130.5:n.1462_1463insCCT
NM_152778.2:c.1120_1121insCCT NP_689991.1:p.Ile374delinsThrPhe
XM_005262893.1:c.1120_1121insCCT XP_005262950.1:p.Ile374delinsThrPhe
XM_005262896.1:c.973_974insCCT XP_005262953.1:p.Ile325delinsThrPhe
XM_005262897.1:c.919_920insCCT XP_005262954.1:p.Ile307delinsThrPhe
XM_005262898.2:c.*5_*6insCCT XP_005262955.1:n.*5_*6insCCT
XM_011531830.1:c.1006_1007insCCT XP_011530132.1:p.Ile336delinsThrPhe
XM_011531831.1:c.805_806insCCT XP_011530133.1:p.Ile269delinsThrPhe
XM_011531832.1:c.*5_*6insCCT XP_011530134.1:n.*5_*6insCCT
XR_938717.1:n.1197_1198insCCT
NM_001363520.1:c.919_920insCCT NP_001350449.1:p.Ile307delinsThrPhe
NM_001363521.1:c.805_806insCCT NP_001350450.1:p.Ile269delinsThrPhe
XM_005262898.3:c.*5_*6insCCT XP_005262955.1:n.*5_*6insCCT
XM_017007989.1:c.*5_*6insCCT XP_016863478.1:n.*5_*6insCCT
XM_024453981.1:c.985_986insCCT XP_024309749.1:p.Ile329delinsThrPhe
XM_024453982.1:c.871_872insCCT XP_024309750.1:p.Ile291delinsThrPhe
XM_024453983.1:c.670_671insCCT XP_024309751.1:p.Ile224delinsThrPhe
XR_001741194.1:n.1093_1094insCCT
XR_001741195.1:n.979_980insCCT
XR_001741196.1:n.892_893insCCT
XR_001741197.1:n.1052_1053insCCT
XR_001741198.2:n.948_949insCCT
XR_001741199.1:n.948_949insCCT
XR_938717.2:n.1197_1198insCCT
NM_001363520.2:c.919_920insCCT NP_001350449.1:p.Ile307delinsThrPhe
NM_001363521.2:c.805_806insCCT NP_001350450.1:p.Ile269delinsThrPhe
NM_001371590.1:c.985_986insCCT NP_001358519.1:p.Ile329delinsThrPhe
NM_001371591.1:c.1120_1121insCCT NP_001358520.1:p.Ile374delinsThrPhe
NM_001371592.1:c.1126_1127insCCT NP_001358521.1:p.Ile376delinsThrPhe
NM_001371593.1:c.1006_1007insCCT NP_001358522.1:p.Ile336delinsThrPhe
NM_001371594.1:c.973_974insCCT NP_001358523.1:p.Ile325delinsThrPhe
NM_001371595.1:c.838_839insCCT NP_001358524.1:p.Ile280delinsThrPhe
NM_001371596.2:c.1120_1121insCCT MANE Select NP_001358525.1:p.Ile374delinsThrPhe
NM_152778.3:c.1120_1121insCCT NP_689991.1:p.Ile374delinsThrPhe
NM_152778.4:c.1120_1121insCCT NP_689991.1:p.Ile374delinsThrPhe