Canonical Allele Identifier: CA2763478441

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127920936_127920937insACAA , CM000666.2:g.127920936_127920937insACAA	GRCh38
NC_000004.11:g.128842091_128842092insACAA , CM000666.1:g.128842091_128842092insACAA	GRCh37
NC_000004.10:g.129061541_129061542insACAA	NCBI36
NG_008657.1:g.50048_50049insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1351-101_1351-100insTTGT	ENSP00000296468.3:n.1351-101_1351-100insTTGT
ENST00000509826.2:c.*672-101_*672-100insTTGT	ENSP00000421176.2:n.*672-101_*672-100insTTGT
ENST00000513559.6:c.1069-101_1069-100insTTGT	ENSP00000425000.2:n.1069-101_1069-100insTTGT
ENST00000515130.6:c.*236-101_*236-100insTTGT	ENSP00000493056.1:n.*236-101_*236-100insTTGT
ENST00000641025.1:c.*236-101_*236-100insTTGT	ENSP00000493346.1:n.*236-101_*236-100insTTGT
ENST00000641092.1:c.*236-101_*236-100insTTGT	ENSP00000493392.1:n.*236-101_*236-100insTTGT
ENST00000641133.1:c.*1251_*1252insTTGT	ENSP00000493192.1:n.*1251_*1252insTTGT
ENST00000641146.1:n.1803_1804insTTGT
ENST00000641147.1:c.901-101_901-100insTTGT	ENSP00000493133.1:n.901-101_901-100insTTGT
ENST00000641178.1:c.1216-101_1216-100insTTGT	ENSP00000492989.1:n.1216-101_1216-100insTTGT
ENST00000641186.1:c.1237-101_1237-100insTTGT	ENSP00000493347.1:n.1237-101_1237-100insTTGT
ENST00000641228.1:c.*822_*823insTTGT	ENSP00000493194.1:n.*822_*823insTTGT
ENST00000641332.1:c.*493-101_*493-100insTTGT	ENSP00000493397.1:n.*493-101_*493-100insTTGT
ENST00000641340.1:c.*1066_*1067insTTGT	ENSP00000493191.1:n.*1066_*1067insTTGT
ENST00000641388.1:n.598-101_598-100insTTGT
ENST00000641393.1:c.901-101_901-100insTTGT	ENSP00000493197.1:n.901-101_901-100insTTGT
ENST00000641397.1:c.*236-101_*236-100insTTGT	ENSP00000493406.1:n.*236-101_*236-100insTTGT
ENST00000641413.1:c.276-101_276-100insTTGT
ENST00000641434.1:c.1351-101_1351-100insTTGT	ENSP00000493279.1:n.1351-101_1351-100insTTGT
ENST00000641464.1:c.*584-101_*584-100insTTGT	ENSP00000493438.1:n.*584-101_*584-100insTTGT
ENST00000641482.1:c.*822_*823insTTGT	ENSP00000493277.1:n.*822_*823insTTGT
ENST00000641508.1:c.*584-101_*584-100insTTGT	ENSP00000493209.1:n.*584-101_*584-100insTTGT
ENST00000641509.1:c.1036-101_1036-100insTTGT	ENSP00000493459.1:n.1036-101_1036-100insTTGT
ENST00000641590.1:c.*822_*823insTTGT	ENSP00000493132.1:n.*822_*823insTTGT
ENST00000641658.1:c.*516-101_*516-100insTTGT	ENSP00000492987.1:n.*516-101_*516-100insTTGT
ENST00000641686.2:c.1351-101_1351-100insTTGT MANE Select	ENSP00000493218.2:n.1351-101_1351-100insTTGT
ENST00000641690.1:c.1150-101_1150-100insTTGT	ENSP00000492966.1:n.1150-101_1150-100insTTGT
ENST00000641742.1:c.*516-101_*516-100insTTGT	ENSP00000493315.1:n.*516-101_*516-100insTTGT
ENST00000641748.1:c.1351-101_1351-100insTTGT	ENSP00000493330.1:n.1351-101_1351-100insTTGT
ENST00000641753.1:c.1178-101_1178-100insTTGT
ENST00000641774.1:c.*603-101_*603-100insTTGT	ENSP00000492960.1:n.*603-101_*603-100insTTGT
ENST00000641843.1:c.*412-101_*412-100insTTGT	ENSP00000493174.1:n.*412-101_*412-100insTTGT
ENST00000641869.1:c.552-101_552-100insTTGT
ENST00000641870.1:c.*998_*999insTTGT	ENSP00000493044.1:n.*998_*999insTTGT
ENST00000641882.1:c.*516-101_*516-100insTTGT	ENSP00000493301.1:n.*516-101_*516-100insTTGT
ENST00000641928.1:c.*480-101_*480-100insTTGT	ENSP00000493418.1:n.*480-101_*480-100insTTGT
ENST00000641949.1:c.554-101_554-100insTTGT	ENSP00000492891.1:n.554-101_554-100insTTGT
ENST00000642012.1:n.1215-101_1215-100insTTGT
ENST00000642034.1:c.*236-101_*236-100insTTGT	ENSP00000493285.1:n.*236-101_*236-100insTTGT
ENST00000642042.1:c.*569_*570insTTGT	ENSP00000493260.1:n.*569_*570insTTGT
ENST00000642078.1:c.*412-101_*412-100insTTGT	ENSP00000492885.1:n.*412-101_*412-100insTTGT
ENST00000296468.7:c.1351-101_1351-100insTTGT	ENSP00000296468.3:n.1351-101_1351-100insTTGT
ENST00000513559.5:c.1216-101_1216-100insTTGT	ENSP00000425000.1:n.1216-101_1216-100insTTGT
ENST00000515130.5:n.1693-101_1693-100insTTGT
NM_152778.2:c.1351-101_1351-100insTTGT	NP_689991.1:n.1351-101_1351-100insTTGT
XM_005262893.1:c.1351-101_1351-100insTTGT	XP_005262950.1:n.1351-101_1351-100insTTGT
XM_005262896.1:c.1204-101_1204-100insTTGT	XP_005262953.1:n.1204-101_1204-100insTTGT
XM_005262897.1:c.1150-101_1150-100insTTGT	XP_005262954.1:n.1150-101_1150-100insTTGT
XM_005262898.2:c.*822_*823insTTGT	XP_005262955.1:n.*822_*823insTTGT
XM_011531830.1:c.1237-101_1237-100insTTGT	XP_011530132.1:n.1237-101_1237-100insTTGT
XM_011531831.1:c.1036-101_1036-100insTTGT	XP_011530133.1:n.1036-101_1036-100insTTGT
XM_011531832.1:c.*822_*823insTTGT	XP_011530134.1:n.*822_*823insTTGT
XR_938717.1:n.1834-101_1834-100insTTGT
NM_001363520.1:c.1150-101_1150-100insTTGT	NP_001350449.1:n.1150-101_1150-100insTTGT
NM_001363521.1:c.1036-101_1036-100insTTGT	NP_001350450.1:n.1036-101_1036-100insTTGT
XM_005262898.3:c.*822_*823insTTGT	XP_005262955.1:n.*822_*823insTTGT
XM_017007989.1:c.*822_*823insTTGT	XP_016863478.1:n.*822_*823insTTGT
XM_024453981.1:c.1216-101_1216-100insTTGT	XP_024309749.1:n.1216-101_1216-100insTTGT
XM_024453982.1:c.1102-101_1102-100insTTGT	XP_024309750.1:n.1102-101_1102-100insTTGT
XM_024453983.1:c.901-101_901-100insTTGT	XP_024309751.1:n.901-101_901-100insTTGT
XR_001741194.1:n.1324-101_1324-100insTTGT
XR_001741195.1:n.1210-101_1210-100insTTGT
XR_001741196.1:n.1123-101_1123-100insTTGT
XR_001741197.1:n.1869_1870insTTGT
XR_001741198.2:n.1765_1766insTTGT
XR_001741199.1:n.1179-101_1179-100insTTGT
XR_938717.2:n.1834-101_1834-100insTTGT
NM_001363520.2:c.1150-101_1150-100insTTGT	NP_001350449.1:n.1150-101_1150-100insTTGT
NM_001363521.2:c.1036-101_1036-100insTTGT	NP_001350450.1:n.1036-101_1036-100insTTGT
NM_001371590.1:c.1216-101_1216-100insTTGT	NP_001358519.1:n.1216-101_1216-100insTTGT
NM_001371591.1:c.1360-101_1360-100insTTGT	NP_001358520.1:n.1360-101_1360-100insTTGT
NM_001371592.1:c.1357-101_1357-100insTTGT	NP_001358521.1:n.1357-101_1357-100insTTGT
NM_001371593.1:c.1237-101_1237-100insTTGT	NP_001358522.1:n.1237-101_1237-100insTTGT
NM_001371594.1:c.1204-101_1204-100insTTGT	NP_001358523.1:n.1204-101_1204-100insTTGT
NM_001371595.1:c.1069-101_1069-100insTTGT	NP_001358524.1:n.1069-101_1069-100insTTGT
NM_001371596.2:c.1351-101_1351-100insTTGT MANE Select	NP_001358525.1:n.1351-101_1351-100insTTGT
NM_152778.3:c.1351-101_1351-100insTTGT	NP_689991.1:n.1351-101_1351-100insTTGT
NM_152778.4:c.1351-101_1351-100insTTGT	NP_689991.1:n.1351-101_1351-100insTTGT