Canonical Allele Identifier: CA2763479432

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938892_127939011del , CM000666.2:g.127938892_127939011del	GRCh38
NC_000004.11:g.128860047_128860166del , CM000666.1:g.128860047_128860166del	GRCh37
NC_000004.10:g.129079497_129079616del	NCBI36
NG_008657.1:g.31981_32100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.699-166_699-47del	ENSP00000296468.3:n.699-166_699-47del
ENST00000505284.6:n.915-166_915-47del
ENST00000509826.2:c.698+849_698+968del	ENSP00000421176.2:n.698+849_698+968del
ENST00000513559.6:c.419-168_419-49del	ENSP00000425000.2:n.419-168_419-49del
ENST00000515130.6:c.564-166_564-47del	ENSP00000493056.1:n.564-166_564-47del
ENST00000641025.1:c.699-166_699-47del	ENSP00000493346.1:n.699-166_699-47del
ENST00000641092.1:c.553+3041_553+3160del	ENSP00000493392.1:n.553+3041_553+3160del
ENST00000641133.1:c.*13-166_*13-47del	ENSP00000493192.1:n.*13-166_*13-47del
ENST00000641134.1:c.419-166_419-47del	ENSP00000492925.1:n.419-166_419-47del
ENST00000641147.1:c.304+4748_304+4867del	ENSP00000493133.1:n.304+4748_304+4867del
ENST00000641178.1:c.564-166_564-47del	ENSP00000492989.1:n.564-166_564-47del
ENST00000641186.1:c.585-166_585-47del	ENSP00000493347.1:n.585-166_585-47del
ENST00000641228.1:c.553+3041_553+3160del	ENSP00000493194.1:n.553+3041_553+3160del
ENST00000641243.1:c.554-166_554-47del	ENSP00000493083.1:n.554-166_554-47del
ENST00000641264.1:c.*496-166_*496-47del	ENSP00000492908.1:n.*496-166_*496-47del
ENST00000641332.1:c.554-166_554-47del	ENSP00000493397.1:n.554-166_554-47del
ENST00000641340.1:c.698+849_698+968del	ENSP00000493191.1:n.698+849_698+968del
ENST00000641369.1:c.195-166_195-47del	ENSP00000493037.1:n.195-166_195-47del
ENST00000641393.1:c.304+4748_304+4867del	ENSP00000493197.1:n.304+4748_304+4867del
ENST00000641397.1:c.439+4748_439+4867del	ENSP00000493406.1:n.439+4748_439+4867del
ENST00000641434.1:c.699-166_699-47del	ENSP00000493279.1:n.699-166_699-47del
ENST00000641464.1:c.449+849_449+968del	ENSP00000493438.1:n.449+849_449+968del
ENST00000641482.1:c.699-166_699-47del	ENSP00000493277.1:n.699-166_699-47del
ENST00000641503.1:c.585-166_585-47del	ENSP00000493304.1:n.585-166_585-47del
ENST00000641508.1:c.698+849_698+968del	ENSP00000493209.1:n.698+849_698+968del
ENST00000641509.1:c.439+4748_439+4867del	ENSP00000493459.1:n.439+4748_439+4867del
ENST00000641538.1:c.545-166_545-47del
ENST00000641590.1:c.585-166_585-47del	ENSP00000493132.1:n.585-166_585-47del
ENST00000641658.1:c.419-166_419-47del	ENSP00000492987.1:n.419-166_419-47del
ENST00000641686.2:c.699-166_699-47del MANE Select	ENSP00000493218.2:n.699-166_699-47del
ENST00000641690.1:c.553+3041_553+3160del	ENSP00000492966.1:n.553+3041_553+3160del
ENST00000641695.1:c.699-168_699-49del	ENSP00000493134.1:n.699-168_699-49del
ENST00000641742.1:c.554-166_554-47del	ENSP00000493315.1:n.554-166_554-47del
ENST00000641743.1:c.699-166_699-47del	ENSP00000493130.1:n.699-166_699-47del
ENST00000641748.1:c.699-166_699-47del	ENSP00000493330.1:n.699-166_699-47del
ENST00000641753.1:c.526-166_526-47del
ENST00000641774.1:c.584+849_584+968del	ENSP00000492960.1:n.584+849_584+968del
ENST00000641776.1:c.*251-166_*251-47del	ENSP00000493261.1:n.*251-166_*251-47del
ENST00000641830.1:c.35-166_35-47del
ENST00000641843.1:c.305-166_305-47del	ENSP00000493174.1:n.305-166_305-47del
ENST00000641869.1:c.4-166_4-47del
ENST00000641870.1:c.554-166_554-47del	ENSP00000493044.1:n.554-166_554-47del
ENST00000641882.1:c.440-166_440-47del	ENSP00000493301.1:n.440-166_440-47del
ENST00000641928.1:c.449+849_449+968del	ENSP00000493418.1:n.449+849_449+968del
ENST00000641949.1:c.553+3041_553+3160del	ENSP00000492891.1:n.553+3041_553+3160del
ENST00000642012.1:n.397_516del
ENST00000642034.1:c.585-166_585-47del	ENSP00000493285.1:n.585-166_585-47del
ENST00000642042.1:c.699-166_699-47del	ENSP00000493260.1:n.699-166_699-47del
ENST00000642078.1:c.419-166_419-47del	ENSP00000492885.1:n.419-166_419-47del
ENST00000642121.1:n.91-8187_91-8068del
ENST00000296468.7:c.699-166_699-47del	ENSP00000296468.3:n.699-166_699-47del
ENST00000505284.5:n.594-166_594-47del
ENST00000508441.1:n.566-166_566-47del
ENST00000509826.1:c.449+849_449+968del	ENSP00000421176.1:n.449+849_449+968del
ENST00000513559.5:c.564-166_564-47del	ENSP00000425000.1:n.564-166_564-47del
ENST00000515130.5:n.1145-166_1145-47del
NM_152778.2:c.699-166_699-47del	NP_689991.1:n.699-166_699-47del
XM_005262893.1:c.699-166_699-47del	XP_005262950.1:n.699-166_699-47del
XM_005262896.1:c.554-168_554-49del	XP_005262953.1:n.554-168_554-49del
XM_005262897.1:c.553+3041_553+3160del	XP_005262954.1:n.553+3041_553+3160del
XM_005262898.2:c.699-166_699-47del	XP_005262955.1:n.699-166_699-47del
XM_005262900.2:c.554-166_554-47del	XP_005262957.1:n.554-166_554-47del
XM_011531830.1:c.585-166_585-47del	XP_011530132.1:n.585-166_585-47del
XM_011531831.1:c.439+4748_439+4867del	XP_011530133.1:n.439+4748_439+4867del
XM_011531832.1:c.585-166_585-47del	XP_011530134.1:n.585-166_585-47del
XR_938717.1:n.776-166_776-47del
NM_001363520.1:c.553+3041_553+3160del	NP_001350449.1:n.553+3041_553+3160del
NM_001363521.1:c.439+4748_439+4867del	NP_001350450.1:n.439+4748_439+4867del
XM_005262898.3:c.699-166_699-47del	XP_005262955.1:n.699-166_699-47del
XM_017007989.1:c.553+3041_553+3160del	XP_016863478.1:n.553+3041_553+3160del
XM_024453981.1:c.564-166_564-47del	XP_024309749.1:n.564-166_564-47del
XM_024453982.1:c.450-166_450-47del	XP_024309750.1:n.450-166_450-47del
XM_024453983.1:c.304+4748_304+4867del	XP_024309751.1:n.304+4748_304+4867del
XR_001741194.1:n.776-166_776-47del
XR_001741195.1:n.662-166_662-47del
XR_001741196.1:n.630+3041_630+3160del
XR_001741197.1:n.631-166_631-47del
XR_001741198.2:n.631-166_631-47del
XR_001741199.1:n.631-166_631-47del
XR_938717.2:n.776-166_776-47del
NM_001363520.2:c.553+3041_553+3160del	NP_001350449.1:n.553+3041_553+3160del
NM_001363521.2:c.439+4748_439+4867del	NP_001350450.1:n.439+4748_439+4867del
NM_001371590.1:c.564-166_564-47del	NP_001358519.1:n.564-166_564-47del
NM_001371591.1:c.699-166_699-47del	NP_001358520.1:n.699-166_699-47del
NM_001371592.1:c.705-166_705-47del	NP_001358521.1:n.705-166_705-47del
NM_001371593.1:c.585-166_585-47del	NP_001358522.1:n.585-166_585-47del
NM_001371594.1:c.554-168_554-49del	NP_001358523.1:n.554-168_554-49del
NM_001371595.1:c.419-168_419-49del	NP_001358524.1:n.419-168_419-49del
NM_001371596.2:c.699-166_699-47del MANE Select	NP_001358525.1:n.699-166_699-47del
NM_152778.3:c.699-166_699-47del	NP_689991.1:n.699-166_699-47del
NM_152778.4:c.699-166_699-47del	NP_689991.1:n.699-166_699-47del