Canonical Allele Identifier: CA2763478371

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127920895_127920901del , CM000666.2:g.127920895_127920901del	GRCh38
NC_000004.11:g.128842050_128842056del , CM000666.1:g.128842050_128842056del	GRCh37
NC_000004.10:g.129061500_129061506del	NCBI36
NG_008657.1:g.50084_50090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1351-65_1351-59del	ENSP00000296468.3:n.1351-65_1351-59del
ENST00000509826.2:c.*672-65_*672-59del	ENSP00000421176.2:n.*672-65_*672-59del
ENST00000513559.6:c.1069-65_1069-59del	ENSP00000425000.2:n.1069-65_1069-59del
ENST00000515130.6:c.*236-65_*236-59del	ENSP00000493056.1:n.*236-65_*236-59del
ENST00000641025.1:c.*236-65_*236-59del	ENSP00000493346.1:n.*236-65_*236-59del
ENST00000641092.1:c.*236-65_*236-59del	ENSP00000493392.1:n.*236-65_*236-59del
ENST00000641133.1:c.*1287_*1293del	ENSP00000493192.1:n.*1287_*1293del
ENST00000641146.1:n.1839_1845del
ENST00000641147.1:c.901-65_901-59del	ENSP00000493133.1:n.901-65_901-59del
ENST00000641178.1:c.1216-65_1216-59del	ENSP00000492989.1:n.1216-65_1216-59del
ENST00000641186.1:c.1237-65_1237-59del	ENSP00000493347.1:n.1237-65_1237-59del
ENST00000641228.1:c.*858_*864del	ENSP00000493194.1:n.*858_*864del
ENST00000641332.1:c.*493-65_*493-59del	ENSP00000493397.1:n.*493-65_*493-59del
ENST00000641340.1:c.*1102_*1108del	ENSP00000493191.1:n.*1102_*1108del
ENST00000641388.1:n.598-65_598-59del
ENST00000641393.1:c.901-65_901-59del	ENSP00000493197.1:n.901-65_901-59del
ENST00000641397.1:c.*236-65_*236-59del	ENSP00000493406.1:n.*236-65_*236-59del
ENST00000641413.1:c.276-65_276-59del
ENST00000641434.1:c.1351-65_1351-59del	ENSP00000493279.1:n.1351-65_1351-59del
ENST00000641464.1:c.*584-65_*584-59del	ENSP00000493438.1:n.*584-65_*584-59del
ENST00000641482.1:c.*858_*864del	ENSP00000493277.1:n.*858_*864del
ENST00000641508.1:c.*584-65_*584-59del	ENSP00000493209.1:n.*584-65_*584-59del
ENST00000641509.1:c.1036-65_1036-59del	ENSP00000493459.1:n.1036-65_1036-59del
ENST00000641590.1:c.*858_*864del	ENSP00000493132.1:n.*858_*864del
ENST00000641658.1:c.*516-65_*516-59del	ENSP00000492987.1:n.*516-65_*516-59del
ENST00000641686.2:c.1351-65_1351-59del MANE Select	ENSP00000493218.2:n.1351-65_1351-59del
ENST00000641690.1:c.1150-65_1150-59del	ENSP00000492966.1:n.1150-65_1150-59del
ENST00000641742.1:c.*516-65_*516-59del	ENSP00000493315.1:n.*516-65_*516-59del
ENST00000641748.1:c.1351-65_1351-59del	ENSP00000493330.1:n.1351-65_1351-59del
ENST00000641753.1:c.1178-65_1178-59del
ENST00000641774.1:c.*603-65_*603-59del	ENSP00000492960.1:n.*603-65_*603-59del
ENST00000641843.1:c.*412-65_*412-59del	ENSP00000493174.1:n.*412-65_*412-59del
ENST00000641869.1:c.552-65_552-59del
ENST00000641870.1:c.*1034_*1040del	ENSP00000493044.1:n.*1034_*1040del
ENST00000641882.1:c.*516-65_*516-59del	ENSP00000493301.1:n.*516-65_*516-59del
ENST00000641928.1:c.*480-65_*480-59del	ENSP00000493418.1:n.*480-65_*480-59del
ENST00000641949.1:c.554-65_554-59del	ENSP00000492891.1:n.554-65_554-59del
ENST00000642012.1:n.1215-65_1215-59del
ENST00000642034.1:c.*236-65_*236-59del	ENSP00000493285.1:n.*236-65_*236-59del
ENST00000642042.1:c.*605_*611del	ENSP00000493260.1:n.*605_*611del
ENST00000642078.1:c.*412-65_*412-59del	ENSP00000492885.1:n.*412-65_*412-59del
ENST00000296468.7:c.1351-65_1351-59del	ENSP00000296468.3:n.1351-65_1351-59del
ENST00000513559.5:c.1216-65_1216-59del	ENSP00000425000.1:n.1216-65_1216-59del
ENST00000515130.5:n.1693-65_1693-59del
NM_152778.2:c.1351-65_1351-59del	NP_689991.1:n.1351-65_1351-59del
XM_005262893.1:c.1351-65_1351-59del	XP_005262950.1:n.1351-65_1351-59del
XM_005262896.1:c.1204-65_1204-59del	XP_005262953.1:n.1204-65_1204-59del
XM_005262897.1:c.1150-65_1150-59del	XP_005262954.1:n.1150-65_1150-59del
XM_005262898.2:c.*858_*864del	XP_005262955.1:n.*858_*864del
XM_011531830.1:c.1237-65_1237-59del	XP_011530132.1:n.1237-65_1237-59del
XM_011531831.1:c.1036-65_1036-59del	XP_011530133.1:n.1036-65_1036-59del
XM_011531832.1:c.*858_*864del	XP_011530134.1:n.*858_*864del
XR_938717.1:n.1834-65_1834-59del
NM_001363520.1:c.1150-65_1150-59del	NP_001350449.1:n.1150-65_1150-59del
NM_001363521.1:c.1036-65_1036-59del	NP_001350450.1:n.1036-65_1036-59del
XM_005262898.3:c.*858_*864del	XP_005262955.1:n.*858_*864del
XM_017007989.1:c.*858_*864del	XP_016863478.1:n.*858_*864del
XM_024453981.1:c.1216-65_1216-59del	XP_024309749.1:n.1216-65_1216-59del
XM_024453982.1:c.1102-65_1102-59del	XP_024309750.1:n.1102-65_1102-59del
XM_024453983.1:c.901-65_901-59del	XP_024309751.1:n.901-65_901-59del
XR_001741194.1:n.1324-65_1324-59del
XR_001741195.1:n.1210-65_1210-59del
XR_001741196.1:n.1123-65_1123-59del
XR_001741197.1:n.1905_1911del
XR_001741198.2:n.1801_1807del
XR_001741199.1:n.1179-65_1179-59del
XR_938717.2:n.1834-65_1834-59del
NM_001363520.2:c.1150-65_1150-59del	NP_001350449.1:n.1150-65_1150-59del
NM_001363521.2:c.1036-65_1036-59del	NP_001350450.1:n.1036-65_1036-59del
NM_001371590.1:c.1216-65_1216-59del	NP_001358519.1:n.1216-65_1216-59del
NM_001371591.1:c.1360-65_1360-59del	NP_001358520.1:n.1360-65_1360-59del
NM_001371592.1:c.1357-65_1357-59del	NP_001358521.1:n.1357-65_1357-59del
NM_001371593.1:c.1237-65_1237-59del	NP_001358522.1:n.1237-65_1237-59del
NM_001371594.1:c.1204-65_1204-59del	NP_001358523.1:n.1204-65_1204-59del
NM_001371595.1:c.1069-65_1069-59del	NP_001358524.1:n.1069-65_1069-59del
NM_001371596.2:c.1351-65_1351-59del MANE Select	NP_001358525.1:n.1351-65_1351-59del
NM_152778.3:c.1351-65_1351-59del	NP_689991.1:n.1351-65_1351-59del
NM_152778.4:c.1351-65_1351-59del	NP_689991.1:n.1351-65_1351-59del