Canonical Allele Identifier: CA2763478474

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127920963_127920970del , CM000666.2:g.127920963_127920970del	GRCh38
NC_000004.11:g.128842118_128842125del , CM000666.1:g.128842118_128842125del	GRCh37
NC_000004.10:g.129061568_129061575del	NCBI36
NG_008657.1:g.50015_50022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1351-134_1351-127del	ENSP00000296468.3:n.1351-134_1351-127del
ENST00000509826.2:c.*672-134_*672-127del	ENSP00000421176.2:n.*672-134_*672-127del
ENST00000513559.6:c.1069-134_1069-127del	ENSP00000425000.2:n.1069-134_1069-127del
ENST00000515130.6:c.*236-134_*236-127del	ENSP00000493056.1:n.*236-134_*236-127del
ENST00000641025.1:c.*236-134_*236-127del	ENSP00000493346.1:n.*236-134_*236-127del
ENST00000641092.1:c.*236-134_*236-127del	ENSP00000493392.1:n.*236-134_*236-127del
ENST00000641133.1:c.*1218_*1225del	ENSP00000493192.1:n.*1218_*1225del
ENST00000641146.1:n.1770_1777del
ENST00000641147.1:c.901-134_901-127del	ENSP00000493133.1:n.901-134_901-127del
ENST00000641178.1:c.1216-134_1216-127del	ENSP00000492989.1:n.1216-134_1216-127del
ENST00000641186.1:c.1237-134_1237-127del	ENSP00000493347.1:n.1237-134_1237-127del
ENST00000641228.1:c.*789_*796del	ENSP00000493194.1:n.*789_*796del
ENST00000641332.1:c.*493-134_*493-127del	ENSP00000493397.1:n.*493-134_*493-127del
ENST00000641340.1:c.*1033_*1040del	ENSP00000493191.1:n.*1033_*1040del
ENST00000641388.1:n.598-134_598-127del
ENST00000641393.1:c.901-134_901-127del	ENSP00000493197.1:n.901-134_901-127del
ENST00000641397.1:c.*236-134_*236-127del	ENSP00000493406.1:n.*236-134_*236-127del
ENST00000641413.1:c.276-134_276-127del
ENST00000641434.1:c.1351-134_1351-127del	ENSP00000493279.1:n.1351-134_1351-127del
ENST00000641464.1:c.*584-134_*584-127del	ENSP00000493438.1:n.*584-134_*584-127del
ENST00000641482.1:c.*789_*796del	ENSP00000493277.1:n.*789_*796del
ENST00000641508.1:c.*584-134_*584-127del	ENSP00000493209.1:n.*584-134_*584-127del
ENST00000641509.1:c.1036-134_1036-127del	ENSP00000493459.1:n.1036-134_1036-127del
ENST00000641590.1:c.*789_*796del	ENSP00000493132.1:n.*789_*796del
ENST00000641658.1:c.*516-134_*516-127del	ENSP00000492987.1:n.*516-134_*516-127del
ENST00000641686.2:c.1351-134_1351-127del MANE Select	ENSP00000493218.2:n.1351-134_1351-127del
ENST00000641690.1:c.1150-134_1150-127del	ENSP00000492966.1:n.1150-134_1150-127del
ENST00000641742.1:c.*516-134_*516-127del	ENSP00000493315.1:n.*516-134_*516-127del
ENST00000641748.1:c.1351-134_1351-127del	ENSP00000493330.1:n.1351-134_1351-127del
ENST00000641753.1:c.1178-134_1178-127del
ENST00000641774.1:c.*603-134_*603-127del	ENSP00000492960.1:n.*603-134_*603-127del
ENST00000641843.1:c.*412-134_*412-127del	ENSP00000493174.1:n.*412-134_*412-127del
ENST00000641869.1:c.552-134_552-127del
ENST00000641870.1:c.*965_*972del	ENSP00000493044.1:n.*965_*972del
ENST00000641882.1:c.*516-134_*516-127del	ENSP00000493301.1:n.*516-134_*516-127del
ENST00000641928.1:c.*480-134_*480-127del	ENSP00000493418.1:n.*480-134_*480-127del
ENST00000641949.1:c.554-134_554-127del	ENSP00000492891.1:n.554-134_554-127del
ENST00000642012.1:n.1215-134_1215-127del
ENST00000642034.1:c.*236-134_*236-127del	ENSP00000493285.1:n.*236-134_*236-127del
ENST00000642042.1:c.*536_*543del	ENSP00000493260.1:n.*536_*543del
ENST00000642078.1:c.*412-134_*412-127del	ENSP00000492885.1:n.*412-134_*412-127del
ENST00000296468.7:c.1351-134_1351-127del	ENSP00000296468.3:n.1351-134_1351-127del
ENST00000513559.5:c.1216-134_1216-127del	ENSP00000425000.1:n.1216-134_1216-127del
ENST00000515130.5:n.1693-134_1693-127del
NM_152778.2:c.1351-134_1351-127del	NP_689991.1:n.1351-134_1351-127del
XM_005262893.1:c.1351-134_1351-127del	XP_005262950.1:n.1351-134_1351-127del
XM_005262896.1:c.1204-134_1204-127del	XP_005262953.1:n.1204-134_1204-127del
XM_005262897.1:c.1150-134_1150-127del	XP_005262954.1:n.1150-134_1150-127del
XM_005262898.2:c.*789_*796del	XP_005262955.1:n.*789_*796del
XM_011531830.1:c.1237-134_1237-127del	XP_011530132.1:n.1237-134_1237-127del
XM_011531831.1:c.1036-134_1036-127del	XP_011530133.1:n.1036-134_1036-127del
XM_011531832.1:c.*789_*796del	XP_011530134.1:n.*789_*796del
XR_938717.1:n.1834-134_1834-127del
NM_001363520.1:c.1150-134_1150-127del	NP_001350449.1:n.1150-134_1150-127del
NM_001363521.1:c.1036-134_1036-127del	NP_001350450.1:n.1036-134_1036-127del
XM_005262898.3:c.*789_*796del	XP_005262955.1:n.*789_*796del
XM_017007989.1:c.*789_*796del	XP_016863478.1:n.*789_*796del
XM_024453981.1:c.1216-134_1216-127del	XP_024309749.1:n.1216-134_1216-127del
XM_024453982.1:c.1102-134_1102-127del	XP_024309750.1:n.1102-134_1102-127del
XM_024453983.1:c.901-134_901-127del	XP_024309751.1:n.901-134_901-127del
XR_001741194.1:n.1324-134_1324-127del
XR_001741195.1:n.1210-134_1210-127del
XR_001741196.1:n.1123-134_1123-127del
XR_001741197.1:n.1836_1843del
XR_001741198.2:n.1732_1739del
XR_001741199.1:n.1179-134_1179-127del
XR_938717.2:n.1834-134_1834-127del
NM_001363520.2:c.1150-134_1150-127del	NP_001350449.1:n.1150-134_1150-127del
NM_001363521.2:c.1036-134_1036-127del	NP_001350450.1:n.1036-134_1036-127del
NM_001371590.1:c.1216-134_1216-127del	NP_001358519.1:n.1216-134_1216-127del
NM_001371591.1:c.1360-134_1360-127del	NP_001358520.1:n.1360-134_1360-127del
NM_001371592.1:c.1357-134_1357-127del	NP_001358521.1:n.1357-134_1357-127del
NM_001371593.1:c.1237-134_1237-127del	NP_001358522.1:n.1237-134_1237-127del
NM_001371594.1:c.1204-134_1204-127del	NP_001358523.1:n.1204-134_1204-127del
NM_001371595.1:c.1069-134_1069-127del	NP_001358524.1:n.1069-134_1069-127del
NM_001371596.2:c.1351-134_1351-127del MANE Select	NP_001358525.1:n.1351-134_1351-127del
NM_152778.3:c.1351-134_1351-127del	NP_689991.1:n.1351-134_1351-127del
NM_152778.4:c.1351-134_1351-127del	NP_689991.1:n.1351-134_1351-127del