Canonical Allele Identifier: CA2763479502

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127939060_127939067del , CM000666.2:g.127939060_127939067del	GRCh38
NC_000004.11:g.128860215_128860222del , CM000666.1:g.128860215_128860222del	GRCh37
NC_000004.10:g.129079665_129079672del	NCBI36
NG_008657.1:g.31918_31925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.699-229_699-222del	ENSP00000296468.3:n.699-229_699-222del
ENST00000505284.6:n.915-229_915-222del
ENST00000509826.2:c.698+786_698+793del	ENSP00000421176.2:n.698+786_698+793del
ENST00000513559.6:c.419-231_419-224del	ENSP00000425000.2:n.419-231_419-224del
ENST00000515130.6:c.564-229_564-222del	ENSP00000493056.1:n.564-229_564-222del
ENST00000641025.1:c.699-229_699-222del	ENSP00000493346.1:n.699-229_699-222del
ENST00000641092.1:c.553+2978_553+2985del	ENSP00000493392.1:n.553+2978_553+2985del
ENST00000641133.1:c.*13-229_*13-222del	ENSP00000493192.1:n.*13-229_*13-222del
ENST00000641134.1:c.419-229_419-222del	ENSP00000492925.1:n.419-229_419-222del
ENST00000641147.1:c.304+4685_304+4692del	ENSP00000493133.1:n.304+4685_304+4692del
ENST00000641178.1:c.564-229_564-222del	ENSP00000492989.1:n.564-229_564-222del
ENST00000641186.1:c.585-229_585-222del	ENSP00000493347.1:n.585-229_585-222del
ENST00000641228.1:c.553+2978_553+2985del	ENSP00000493194.1:n.553+2978_553+2985del
ENST00000641243.1:c.554-229_554-222del	ENSP00000493083.1:n.554-229_554-222del
ENST00000641264.1:c.*496-229_*496-222del	ENSP00000492908.1:n.*496-229_*496-222del
ENST00000641332.1:c.554-229_554-222del	ENSP00000493397.1:n.554-229_554-222del
ENST00000641340.1:c.698+786_698+793del	ENSP00000493191.1:n.698+786_698+793del
ENST00000641369.1:c.195-229_195-222del	ENSP00000493037.1:n.195-229_195-222del
ENST00000641393.1:c.304+4685_304+4692del	ENSP00000493197.1:n.304+4685_304+4692del
ENST00000641397.1:c.439+4685_439+4692del	ENSP00000493406.1:n.439+4685_439+4692del
ENST00000641434.1:c.699-229_699-222del	ENSP00000493279.1:n.699-229_699-222del
ENST00000641464.1:c.449+786_449+793del	ENSP00000493438.1:n.449+786_449+793del
ENST00000641482.1:c.699-229_699-222del	ENSP00000493277.1:n.699-229_699-222del
ENST00000641503.1:c.585-229_585-222del	ENSP00000493304.1:n.585-229_585-222del
ENST00000641508.1:c.698+786_698+793del	ENSP00000493209.1:n.698+786_698+793del
ENST00000641509.1:c.439+4685_439+4692del	ENSP00000493459.1:n.439+4685_439+4692del
ENST00000641538.1:c.545-229_545-222del
ENST00000641590.1:c.585-229_585-222del	ENSP00000493132.1:n.585-229_585-222del
ENST00000641658.1:c.419-229_419-222del	ENSP00000492987.1:n.419-229_419-222del
ENST00000641686.2:c.699-229_699-222del MANE Select	ENSP00000493218.2:n.699-229_699-222del
ENST00000641690.1:c.553+2978_553+2985del	ENSP00000492966.1:n.553+2978_553+2985del
ENST00000641695.1:c.699-231_699-224del	ENSP00000493134.1:n.699-231_699-224del
ENST00000641742.1:c.554-229_554-222del	ENSP00000493315.1:n.554-229_554-222del
ENST00000641743.1:c.699-229_699-222del	ENSP00000493130.1:n.699-229_699-222del
ENST00000641748.1:c.699-229_699-222del	ENSP00000493330.1:n.699-229_699-222del
ENST00000641753.1:c.526-229_526-222del
ENST00000641774.1:c.584+786_584+793del	ENSP00000492960.1:n.584+786_584+793del
ENST00000641776.1:c.*251-229_*251-222del	ENSP00000493261.1:n.*251-229_*251-222del
ENST00000641830.1:c.35-229_35-222del
ENST00000641843.1:c.305-229_305-222del	ENSP00000493174.1:n.305-229_305-222del
ENST00000641869.1:c.4-229_4-222del
ENST00000641870.1:c.554-229_554-222del	ENSP00000493044.1:n.554-229_554-222del
ENST00000641882.1:c.440-229_440-222del	ENSP00000493301.1:n.440-229_440-222del
ENST00000641928.1:c.449+786_449+793del	ENSP00000493418.1:n.449+786_449+793del
ENST00000641949.1:c.553+2978_553+2985del	ENSP00000492891.1:n.553+2978_553+2985del
ENST00000642012.1:n.334_341del
ENST00000642034.1:c.585-229_585-222del	ENSP00000493285.1:n.585-229_585-222del
ENST00000642042.1:c.699-229_699-222del	ENSP00000493260.1:n.699-229_699-222del
ENST00000642078.1:c.419-229_419-222del	ENSP00000492885.1:n.419-229_419-222del
ENST00000642121.1:n.91-8250_91-8243del
ENST00000296468.7:c.699-229_699-222del	ENSP00000296468.3:n.699-229_699-222del
ENST00000505284.5:n.594-229_594-222del
ENST00000508441.1:n.566-229_566-222del
ENST00000509826.1:c.449+786_449+793del	ENSP00000421176.1:n.449+786_449+793del
ENST00000513559.5:c.564-229_564-222del	ENSP00000425000.1:n.564-229_564-222del
ENST00000515130.5:n.1145-229_1145-222del
NM_152778.2:c.699-229_699-222del	NP_689991.1:n.699-229_699-222del
XM_005262893.1:c.699-229_699-222del	XP_005262950.1:n.699-229_699-222del
XM_005262896.1:c.554-231_554-224del	XP_005262953.1:n.554-231_554-224del
XM_005262897.1:c.553+2978_553+2985del	XP_005262954.1:n.553+2978_553+2985del
XM_005262898.2:c.699-229_699-222del	XP_005262955.1:n.699-229_699-222del
XM_005262900.2:c.554-229_554-222del	XP_005262957.1:n.554-229_554-222del
XM_011531830.1:c.585-229_585-222del	XP_011530132.1:n.585-229_585-222del
XM_011531831.1:c.439+4685_439+4692del	XP_011530133.1:n.439+4685_439+4692del
XM_011531832.1:c.585-229_585-222del	XP_011530134.1:n.585-229_585-222del
XR_938717.1:n.776-229_776-222del
NM_001363520.1:c.553+2978_553+2985del	NP_001350449.1:n.553+2978_553+2985del
NM_001363521.1:c.439+4685_439+4692del	NP_001350450.1:n.439+4685_439+4692del
XM_005262898.3:c.699-229_699-222del	XP_005262955.1:n.699-229_699-222del
XM_017007989.1:c.553+2978_553+2985del	XP_016863478.1:n.553+2978_553+2985del
XM_024453981.1:c.564-229_564-222del	XP_024309749.1:n.564-229_564-222del
XM_024453982.1:c.450-229_450-222del	XP_024309750.1:n.450-229_450-222del
XM_024453983.1:c.304+4685_304+4692del	XP_024309751.1:n.304+4685_304+4692del
XR_001741194.1:n.776-229_776-222del
XR_001741195.1:n.662-229_662-222del
XR_001741196.1:n.630+2978_630+2985del
XR_001741197.1:n.631-229_631-222del
XR_001741198.2:n.631-229_631-222del
XR_001741199.1:n.631-229_631-222del
XR_938717.2:n.776-229_776-222del
NM_001363520.2:c.553+2978_553+2985del	NP_001350449.1:n.553+2978_553+2985del
NM_001363521.2:c.439+4685_439+4692del	NP_001350450.1:n.439+4685_439+4692del
NM_001371590.1:c.564-229_564-222del	NP_001358519.1:n.564-229_564-222del
NM_001371591.1:c.699-229_699-222del	NP_001358520.1:n.699-229_699-222del
NM_001371592.1:c.705-229_705-222del	NP_001358521.1:n.705-229_705-222del
NM_001371593.1:c.585-229_585-222del	NP_001358522.1:n.585-229_585-222del
NM_001371594.1:c.554-231_554-224del	NP_001358523.1:n.554-231_554-224del
NM_001371595.1:c.419-231_419-224del	NP_001358524.1:n.419-231_419-224del
NM_001371596.2:c.699-229_699-222del MANE Select	NP_001358525.1:n.699-229_699-222del
NM_152778.3:c.699-229_699-222del	NP_689991.1:n.699-229_699-222del
NM_152778.4:c.699-229_699-222del	NP_689991.1:n.699-229_699-222del