Canonical Allele Identifier: CA2573138006
Gene: MFSD8 HGNC NCBI

Linked Data

dbSNP Id: rs2148840045

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921673_127921678del , CM000666.2:g.127921673_127921678del GRCh38
NC_000004.11:g.128842828_128842833del , CM000666.1:g.128842828_128842833del GRCh37
NC_000004.10:g.129062278_129062283del NCBI36
NG_008657.1:g.49307_49312del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1196_1201del ENSP00000296468.3:p.Thr399_Cys401delinsSer
ENST00000509826.2:c.*517_*522del ENSP00000421176.2:n.*517_*522del
ENST00000513559.6:c.914_919del ENSP00000425000.2:p.Thr305_Cys307delinsSer
ENST00000515130.6:c.*81_*86del ENSP00000493056.1:n.*81_*86del
ENST00000641025.1:c.*81_*86del ENSP00000493346.1:n.*81_*86del
ENST00000641092.1:c.*81_*86del ENSP00000493392.1:n.*81_*86del
ENST00000641133.1:c.*510_*515del ENSP00000493192.1:n.*510_*515del
ENST00000641146.1:n.1062_1067del
ENST00000641147.1:c.746_751del ENSP00000493133.1:p.Thr249_Cys251delinsSer
ENST00000641178.1:c.1061_1066del ENSP00000492989.1:p.Thr354_Cys356delinsSer
ENST00000641186.1:c.1082_1087del ENSP00000493347.1:p.Thr361_Cys363delinsSer
ENST00000641228.1:c.*81_*86del ENSP00000493194.1:n.*81_*86del
ENST00000641332.1:c.*257_*262del ENSP00000493397.1:n.*257_*262del
ENST00000641340.1:c.*325_*330del ENSP00000493191.1:n.*325_*330del
ENST00000641388.1:n.443_448del
ENST00000641393.1:c.746_751del ENSP00000493197.1:p.Thr249_Cys251delinsSer
ENST00000641397.1:c.*81_*86del ENSP00000493406.1:n.*81_*86del
ENST00000641413.1:c.121_126del
ENST00000641434.1:c.1196_1201del ENSP00000493279.1:p.Thr399_Cys401delinsSer
ENST00000641464.1:c.*429_*434del ENSP00000493438.1:n.*429_*434del
ENST00000641482.1:c.*81_*86del ENSP00000493277.1:n.*81_*86del
ENST00000641508.1:c.*429_*434del ENSP00000493209.1:n.*429_*434del
ENST00000641509.1:c.881_886del ENSP00000493459.1:p.Thr294_Cys296delinsSer
ENST00000641590.1:c.*81_*86del ENSP00000493132.1:n.*81_*86del
ENST00000641658.1:c.*361_*366del ENSP00000492987.1:n.*361_*366del
ENST00000641686.2:c.1196_1201del MANE Select ENSP00000493218.2:p.Thr399_Cys401delinsSer
ENST00000641690.1:c.995_1000del ENSP00000492966.1:p.Thr332_Cys334delinsSer
ENST00000641742.1:c.*361_*366del ENSP00000493315.1:n.*361_*366del
ENST00000641748.1:c.1196_1201del ENSP00000493330.1:p.Thr399_Cys401delinsSer
ENST00000641753.1:c.1023_1028del
ENST00000641774.1:c.*448_*453del ENSP00000492960.1:n.*448_*453del
ENST00000641830.1:c.428_433del
ENST00000641843.1:c.*257_*262del ENSP00000493174.1:n.*257_*262del
ENST00000641869.1:c.397_402del
ENST00000641870.1:c.*257_*262del ENSP00000493044.1:n.*257_*262del
ENST00000641882.1:c.*361_*366del ENSP00000493301.1:n.*361_*366del
ENST00000641928.1:c.*325_*330del ENSP00000493418.1:n.*325_*330del
ENST00000641949.1:c.554-842_554-837del ENSP00000492891.1:n.554-842_554-837del
ENST00000642012.1:n.1060_1065del
ENST00000642034.1:c.*81_*86del ENSP00000493285.1:n.*81_*86del
ENST00000642042.1:c.1196_1201del ENSP00000493260.1:p.Thr399_Cys401delinsSer
ENST00000642078.1:c.*257_*262del ENSP00000492885.1:n.*257_*262del
ENST00000296468.7:c.1196_1201del ENSP00000296468.3:p.Thr399_Cys401delinsSer
ENST00000504126.1:n.224_229del
ENST00000513559.5:c.1061_1066del ENSP00000425000.1:p.Thr354_Cys356delinsSer
ENST00000515130.5:n.1538_1543del
NM_152778.2:c.1196_1201del NP_689991.1:p.Thr399_Cys401delinsSer
XM_005262893.1:c.1196_1201del XP_005262950.1:p.Thr399_Cys401delinsSer
XM_005262896.1:c.1049_1054del XP_005262953.1:p.Thr350_Cys352delinsSer
XM_005262897.1:c.995_1000del XP_005262954.1:p.Thr332_Cys334delinsSer
XM_005262898.2:c.*81_*86del XP_005262955.1:n.*81_*86del
XM_011531830.1:c.1082_1087del XP_011530132.1:p.Thr361_Cys363delinsSer
XM_011531831.1:c.881_886del XP_011530133.1:p.Thr294_Cys296delinsSer
XM_011531832.1:c.*81_*86del XP_011530134.1:n.*81_*86del
XR_938717.1:n.1273_1278del
NM_001363520.1:c.995_1000del NP_001350449.1:p.Thr332_Cys334delinsSer
NM_001363521.1:c.881_886del NP_001350450.1:p.Thr294_Cys296delinsSer
XM_005262898.3:c.*81_*86del XP_005262955.1:n.*81_*86del
XM_017007989.1:c.*81_*86del XP_016863478.1:n.*81_*86del
XM_024453981.1:c.1061_1066del XP_024309749.1:p.Thr354_Cys356delinsSer
XM_024453982.1:c.947_952del XP_024309750.1:p.Thr316_Cys318delinsSer
XM_024453983.1:c.746_751del XP_024309751.1:p.Thr249_Cys251delinsSer
XR_001741194.1:n.1169_1174del
XR_001741195.1:n.1055_1060del
XR_001741196.1:n.968_973del
XR_001741197.1:n.1128_1133del
XR_001741198.2:n.1024_1029del
XR_001741199.1:n.1024_1029del
XR_938717.2:n.1273_1278del
NM_001363520.2:c.995_1000del NP_001350449.1:p.Thr332_Cys334delinsSer
NM_001363521.2:c.881_886del NP_001350450.1:p.Thr294_Cys296delinsSer
NM_001371590.1:c.1061_1066del NP_001358519.1:p.Thr354_Cys356delinsSer
NM_001371591.1:c.1196_1201del NP_001358520.1:p.Thr399_Cys401delinsSer
NM_001371592.1:c.1202_1207del NP_001358521.1:p.Thr401_Cys403delinsSer
NM_001371593.1:c.1082_1087del NP_001358522.1:p.Thr361_Cys363delinsSer
NM_001371594.1:c.1049_1054del NP_001358523.1:p.Thr350_Cys352delinsSer
NM_001371595.1:c.914_919del NP_001358524.1:p.Thr305_Cys307delinsSer
NM_001371596.2:c.1196_1201del MANE Select NP_001358525.1:p.Thr399_Cys401delinsSer
NM_152778.3:c.1196_1201del NP_689991.1:p.Thr399_Cys401delinsSer
NM_152778.4:c.1196_1201del NP_689991.1:p.Thr399_Cys401delinsSer