Canonical Allele Identifier: CA2763479492

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938998_127939037del , CM000666.2:g.127938998_127939037del	GRCh38
NC_000004.11:g.128860153_128860192del , CM000666.1:g.128860153_128860192del	GRCh37
NC_000004.10:g.129079603_129079642del	NCBI36
NG_008657.1:g.31954_31993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.699-193_699-154del	ENSP00000296468.3:n.699-193_699-154del
ENST00000505284.6:n.915-193_915-154del
ENST00000509826.2:c.698+822_698+861del	ENSP00000421176.2:n.698+822_698+861del
ENST00000513559.6:c.419-195_419-156del	ENSP00000425000.2:n.419-195_419-156del
ENST00000515130.6:c.564-193_564-154del	ENSP00000493056.1:n.564-193_564-154del
ENST00000641025.1:c.699-193_699-154del	ENSP00000493346.1:n.699-193_699-154del
ENST00000641092.1:c.553+3014_553+3053del	ENSP00000493392.1:n.553+3014_553+3053del
ENST00000641133.1:c.*13-193_*13-154del	ENSP00000493192.1:n.*13-193_*13-154del
ENST00000641134.1:c.419-193_419-154del	ENSP00000492925.1:n.419-193_419-154del
ENST00000641147.1:c.304+4721_304+4760del	ENSP00000493133.1:n.304+4721_304+4760del
ENST00000641178.1:c.564-193_564-154del	ENSP00000492989.1:n.564-193_564-154del
ENST00000641186.1:c.585-193_585-154del	ENSP00000493347.1:n.585-193_585-154del
ENST00000641228.1:c.553+3014_553+3053del	ENSP00000493194.1:n.553+3014_553+3053del
ENST00000641243.1:c.554-193_554-154del	ENSP00000493083.1:n.554-193_554-154del
ENST00000641264.1:c.*496-193_*496-154del	ENSP00000492908.1:n.*496-193_*496-154del
ENST00000641332.1:c.554-193_554-154del	ENSP00000493397.1:n.554-193_554-154del
ENST00000641340.1:c.698+822_698+861del	ENSP00000493191.1:n.698+822_698+861del
ENST00000641369.1:c.195-193_195-154del	ENSP00000493037.1:n.195-193_195-154del
ENST00000641393.1:c.304+4721_304+4760del	ENSP00000493197.1:n.304+4721_304+4760del
ENST00000641397.1:c.439+4721_439+4760del	ENSP00000493406.1:n.439+4721_439+4760del
ENST00000641434.1:c.699-193_699-154del	ENSP00000493279.1:n.699-193_699-154del
ENST00000641464.1:c.449+822_449+861del	ENSP00000493438.1:n.449+822_449+861del
ENST00000641482.1:c.699-193_699-154del	ENSP00000493277.1:n.699-193_699-154del
ENST00000641503.1:c.585-193_585-154del	ENSP00000493304.1:n.585-193_585-154del
ENST00000641508.1:c.698+822_698+861del	ENSP00000493209.1:n.698+822_698+861del
ENST00000641509.1:c.439+4721_439+4760del	ENSP00000493459.1:n.439+4721_439+4760del
ENST00000641538.1:c.545-193_545-154del
ENST00000641590.1:c.585-193_585-154del	ENSP00000493132.1:n.585-193_585-154del
ENST00000641658.1:c.419-193_419-154del	ENSP00000492987.1:n.419-193_419-154del
ENST00000641686.2:c.699-193_699-154del MANE Select	ENSP00000493218.2:n.699-193_699-154del
ENST00000641690.1:c.553+3014_553+3053del	ENSP00000492966.1:n.553+3014_553+3053del
ENST00000641695.1:c.699-195_699-156del	ENSP00000493134.1:n.699-195_699-156del
ENST00000641742.1:c.554-193_554-154del	ENSP00000493315.1:n.554-193_554-154del
ENST00000641743.1:c.699-193_699-154del	ENSP00000493130.1:n.699-193_699-154del
ENST00000641748.1:c.699-193_699-154del	ENSP00000493330.1:n.699-193_699-154del
ENST00000641753.1:c.526-193_526-154del
ENST00000641774.1:c.584+822_584+861del	ENSP00000492960.1:n.584+822_584+861del
ENST00000641776.1:c.*251-193_*251-154del	ENSP00000493261.1:n.*251-193_*251-154del
ENST00000641830.1:c.35-193_35-154del
ENST00000641843.1:c.305-193_305-154del	ENSP00000493174.1:n.305-193_305-154del
ENST00000641869.1:c.4-193_4-154del
ENST00000641870.1:c.554-193_554-154del	ENSP00000493044.1:n.554-193_554-154del
ENST00000641882.1:c.440-193_440-154del	ENSP00000493301.1:n.440-193_440-154del
ENST00000641928.1:c.449+822_449+861del	ENSP00000493418.1:n.449+822_449+861del
ENST00000641949.1:c.553+3014_553+3053del	ENSP00000492891.1:n.553+3014_553+3053del
ENST00000642012.1:n.370_409del
ENST00000642034.1:c.585-193_585-154del	ENSP00000493285.1:n.585-193_585-154del
ENST00000642042.1:c.699-193_699-154del	ENSP00000493260.1:n.699-193_699-154del
ENST00000642078.1:c.419-193_419-154del	ENSP00000492885.1:n.419-193_419-154del
ENST00000642121.1:n.91-8214_91-8175del
ENST00000296468.7:c.699-193_699-154del	ENSP00000296468.3:n.699-193_699-154del
ENST00000505284.5:n.594-193_594-154del
ENST00000508441.1:n.566-193_566-154del
ENST00000509826.1:c.449+822_449+861del	ENSP00000421176.1:n.449+822_449+861del
ENST00000513559.5:c.564-193_564-154del	ENSP00000425000.1:n.564-193_564-154del
ENST00000515130.5:n.1145-193_1145-154del
NM_152778.2:c.699-193_699-154del	NP_689991.1:n.699-193_699-154del
XM_005262893.1:c.699-193_699-154del	XP_005262950.1:n.699-193_699-154del
XM_005262896.1:c.554-195_554-156del	XP_005262953.1:n.554-195_554-156del
XM_005262897.1:c.553+3014_553+3053del	XP_005262954.1:n.553+3014_553+3053del
XM_005262898.2:c.699-193_699-154del	XP_005262955.1:n.699-193_699-154del
XM_005262900.2:c.554-193_554-154del	XP_005262957.1:n.554-193_554-154del
XM_011531830.1:c.585-193_585-154del	XP_011530132.1:n.585-193_585-154del
XM_011531831.1:c.439+4721_439+4760del	XP_011530133.1:n.439+4721_439+4760del
XM_011531832.1:c.585-193_585-154del	XP_011530134.1:n.585-193_585-154del
XR_938717.1:n.776-193_776-154del
NM_001363520.1:c.553+3014_553+3053del	NP_001350449.1:n.553+3014_553+3053del
NM_001363521.1:c.439+4721_439+4760del	NP_001350450.1:n.439+4721_439+4760del
XM_005262898.3:c.699-193_699-154del	XP_005262955.1:n.699-193_699-154del
XM_017007989.1:c.553+3014_553+3053del	XP_016863478.1:n.553+3014_553+3053del
XM_024453981.1:c.564-193_564-154del	XP_024309749.1:n.564-193_564-154del
XM_024453982.1:c.450-193_450-154del	XP_024309750.1:n.450-193_450-154del
XM_024453983.1:c.304+4721_304+4760del	XP_024309751.1:n.304+4721_304+4760del
XR_001741194.1:n.776-193_776-154del
XR_001741195.1:n.662-193_662-154del
XR_001741196.1:n.630+3014_630+3053del
XR_001741197.1:n.631-193_631-154del
XR_001741198.2:n.631-193_631-154del
XR_001741199.1:n.631-193_631-154del
XR_938717.2:n.776-193_776-154del
NM_001363520.2:c.553+3014_553+3053del	NP_001350449.1:n.553+3014_553+3053del
NM_001363521.2:c.439+4721_439+4760del	NP_001350450.1:n.439+4721_439+4760del
NM_001371590.1:c.564-193_564-154del	NP_001358519.1:n.564-193_564-154del
NM_001371591.1:c.699-193_699-154del	NP_001358520.1:n.699-193_699-154del
NM_001371592.1:c.705-193_705-154del	NP_001358521.1:n.705-193_705-154del
NM_001371593.1:c.585-193_585-154del	NP_001358522.1:n.585-193_585-154del
NM_001371594.1:c.554-195_554-156del	NP_001358523.1:n.554-195_554-156del
NM_001371595.1:c.419-195_419-156del	NP_001358524.1:n.419-195_419-156del
NM_001371596.2:c.699-193_699-154del MANE Select	NP_001358525.1:n.699-193_699-154del
NM_152778.3:c.699-193_699-154del	NP_689991.1:n.699-193_699-154del
NM_152778.4:c.699-193_699-154del	NP_689991.1:n.699-193_699-154del