Canonical Allele Identifier: CA2763478323

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127920773_127920774insA , CM000666.2:g.127920773_127920774insA	GRCh38
NC_000004.11:g.128841928_128841929insA , CM000666.1:g.128841928_128841929insA	GRCh37
NC_000004.10:g.129061378_129061379insA	NCBI36
NG_008657.1:g.50211_50212insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1413_1414insT	ENSP00000296468.3:p.Ile472TyrfsTer?
ENST00000509826.2:c.*734_*735insT	ENSP00000421176.2:n.*734_*735insT
ENST00000513559.6:c.1131_1132insT	ENSP00000425000.2:p.Ile378TyrfsTer?
ENST00000515130.6:c.*298_*299insT	ENSP00000493056.1:n.*298_*299insT
ENST00000641025.1:c.*298_*299insT	ENSP00000493346.1:n.*298_*299insT
ENST00000641092.1:c.*298_*299insT	ENSP00000493392.1:n.*298_*299insT
ENST00000641133.1:c.*1414_*1415insT	ENSP00000493192.1:n.*1414_*1415insT
ENST00000641146.1:n.1966_1967insT
ENST00000641147.1:c.963_964insT	ENSP00000493133.1:p.Ile322TyrfsTer?
ENST00000641178.1:c.1278_1279insT	ENSP00000492989.1:p.Ile427TyrfsTer?
ENST00000641186.1:c.1299_1300insT	ENSP00000493347.1:p.Ile434TyrfsTer?
ENST00000641228.1:c.*985_*986insT	ENSP00000493194.1:n.*985_*986insT
ENST00000641332.1:c.*555_*556insT	ENSP00000493397.1:n.*555_*556insT
ENST00000641340.1:c.*1229_*1230insT	ENSP00000493191.1:n.*1229_*1230insT
ENST00000641388.1:n.660_661insT
ENST00000641393.1:c.963_964insT	ENSP00000493197.1:p.Ile322TyrfsTer?
ENST00000641397.1:c.*298_*299insT	ENSP00000493406.1:n.*298_*299insT
ENST00000641413.1:c.338_339insT
ENST00000641434.1:c.1413_1414insT	ENSP00000493279.1:p.Ile472TyrfsTer?
ENST00000641464.1:c.*646_*647insT	ENSP00000493438.1:n.*646_*647insT
ENST00000641482.1:c.*985_*986insT	ENSP00000493277.1:n.*985_*986insT
ENST00000641508.1:c.*646_*647insT	ENSP00000493209.1:n.*646_*647insT
ENST00000641509.1:c.1098_1099insT	ENSP00000493459.1:p.Ile367TyrfsTer?
ENST00000641590.1:c.*985_*986insT	ENSP00000493132.1:n.*985_*986insT
ENST00000641658.1:c.*578_*579insT	ENSP00000492987.1:n.*578_*579insT
ENST00000641686.2:c.1413_1414insT MANE Select	ENSP00000493218.2:p.Ile472TyrfsTer?
ENST00000641690.1:c.1212_1213insT	ENSP00000492966.1:p.Ile405TyrfsTer?
ENST00000641742.1:c.*578_*579insT	ENSP00000493315.1:n.*578_*579insT
ENST00000641748.1:c.1413_1414insT	ENSP00000493330.1:p.Ile472TyrfsTer?
ENST00000641753.1:c.1240_1241insT
ENST00000641774.1:c.*665_*666insT	ENSP00000492960.1:n.*665_*666insT
ENST00000641843.1:c.*474_*475insT	ENSP00000493174.1:n.*474_*475insT
ENST00000641869.1:c.614_615insT
ENST00000641870.1:c.*1161_*1162insT	ENSP00000493044.1:n.*1161_*1162insT
ENST00000641882.1:c.*578_*579insT	ENSP00000493301.1:n.*578_*579insT
ENST00000641928.1:c.*542_*543insT	ENSP00000493418.1:n.*542_*543insT
ENST00000641949.1:c.616_617insT	ENSP00000492891.1:p.His206LeufsTer21
ENST00000642012.1:n.1277_1278insT
ENST00000642034.1:c.*298_*299insT	ENSP00000493285.1:n.*298_*299insT
ENST00000642042.1:c.*732_*733insT	ENSP00000493260.1:n.*732_*733insT
ENST00000642078.1:c.*474_*475insT	ENSP00000492885.1:n.*474_*475insT
ENST00000296468.7:c.1413_1414insT	ENSP00000296468.3:p.Ile472TyrfsTer?
ENST00000513559.5:c.1278_1279insT	ENSP00000425000.1:p.Ile427TyrfsTer?
ENST00000515130.5:n.1755_1756insT
NM_152778.2:c.1413_1414insT	NP_689991.1:p.Ile472TyrfsTer?
XM_005262893.1:c.1413_1414insT	XP_005262950.1:p.Ile472TyrfsTer?
XM_005262896.1:c.1266_1267insT	XP_005262953.1:p.Ile423TyrfsTer?
XM_005262897.1:c.1212_1213insT	XP_005262954.1:p.Ile405TyrfsTer?
XM_005262898.2:c.*985_*986insT	XP_005262955.1:n.*985_*986insT
XM_011531830.1:c.1299_1300insT	XP_011530132.1:p.Ile434TyrfsTer?
XM_011531831.1:c.1098_1099insT	XP_011530133.1:p.Ile367TyrfsTer?
XM_011531832.1:c.*985_*986insT	XP_011530134.1:n.*985_*986insT
XR_938717.1:n.1896_1897insT
NM_001363520.1:c.1212_1213insT	NP_001350449.1:p.Ile405TyrfsTer?
NM_001363521.1:c.1098_1099insT	NP_001350450.1:p.Ile367TyrfsTer?
XM_005262898.3:c.*985_*986insT	XP_005262955.1:n.*985_*986insT
XM_017007989.1:c.*985_*986insT	XP_016863478.1:n.*985_*986insT
XM_024453981.1:c.1278_1279insT	XP_024309749.1:p.Ile427TyrfsTer?
XM_024453982.1:c.1164_1165insT	XP_024309750.1:p.Ile389TyrfsTer?
XM_024453983.1:c.963_964insT	XP_024309751.1:p.Ile322TyrfsTer?
XR_001741194.1:n.1386_1387insT
XR_001741195.1:n.1272_1273insT
XR_001741196.1:n.1185_1186insT
XR_001741197.1:n.2032_2033insT
XR_001741198.2:n.1928_1929insT
XR_001741199.1:n.1241_1242insT
XR_938717.2:n.1896_1897insT
NM_001363520.2:c.1212_1213insT	NP_001350449.1:p.Ile405TyrfsTer?
NM_001363521.2:c.1098_1099insT	NP_001350450.1:p.Ile367TyrfsTer?
NM_001371590.1:c.1278_1279insT	NP_001358519.1:p.Ile427TyrfsTer?
NM_001371591.1:c.1422_1423insT	NP_001358520.1:p.Ile475TyrfsTer?
NM_001371592.1:c.1419_1420insT	NP_001358521.1:p.Ile474TyrfsTer?
NM_001371593.1:c.1299_1300insT	NP_001358522.1:p.Ile434TyrfsTer?
NM_001371594.1:c.1266_1267insT	NP_001358523.1:p.Ile423TyrfsTer?
NM_001371595.1:c.1131_1132insT	NP_001358524.1:p.Ile378TyrfsTer?
NM_001371596.2:c.1413_1414insT MANE Select	NP_001358525.1:p.Ile472TyrfsTer?
NM_152778.3:c.1413_1414insT	NP_689991.1:p.Ile472TyrfsTer?
NM_152778.4:c.1413_1414insT	NP_689991.1:p.Ile472TyrfsTer?