Canonical Allele Identifier: CA2763479446

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938923_127938927del , CM000666.2:g.127938923_127938927del	GRCh38
NC_000004.11:g.128860078_128860082del , CM000666.1:g.128860078_128860082del	GRCh37
NC_000004.10:g.129079528_129079532del	NCBI36
NG_008657.1:g.32058_32062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.699-89_699-85del	ENSP00000296468.3:n.699-89_699-85del
ENST00000505284.6:n.915-89_915-85del
ENST00000509826.2:c.698+926_698+930del	ENSP00000421176.2:n.698+926_698+930del
ENST00000513559.6:c.419-91_419-87del	ENSP00000425000.2:n.419-91_419-87del
ENST00000515130.6:c.564-89_564-85del	ENSP00000493056.1:n.564-89_564-85del
ENST00000641025.1:c.699-89_699-85del	ENSP00000493346.1:n.699-89_699-85del
ENST00000641092.1:c.553+3118_553+3122del	ENSP00000493392.1:n.553+3118_553+3122del
ENST00000641133.1:c.*13-89_*13-85del	ENSP00000493192.1:n.*13-89_*13-85del
ENST00000641134.1:c.419-89_419-85del	ENSP00000492925.1:n.419-89_419-85del
ENST00000641147.1:c.304+4825_304+4829del	ENSP00000493133.1:n.304+4825_304+4829del
ENST00000641178.1:c.564-89_564-85del	ENSP00000492989.1:n.564-89_564-85del
ENST00000641186.1:c.585-89_585-85del	ENSP00000493347.1:n.585-89_585-85del
ENST00000641228.1:c.553+3118_553+3122del	ENSP00000493194.1:n.553+3118_553+3122del
ENST00000641243.1:c.554-89_554-85del	ENSP00000493083.1:n.554-89_554-85del
ENST00000641264.1:c.*496-89_*496-85del	ENSP00000492908.1:n.*496-89_*496-85del
ENST00000641332.1:c.554-89_554-85del	ENSP00000493397.1:n.554-89_554-85del
ENST00000641340.1:c.698+926_698+930del	ENSP00000493191.1:n.698+926_698+930del
ENST00000641369.1:c.195-89_195-85del	ENSP00000493037.1:n.195-89_195-85del
ENST00000641393.1:c.304+4825_304+4829del	ENSP00000493197.1:n.304+4825_304+4829del
ENST00000641397.1:c.439+4825_439+4829del	ENSP00000493406.1:n.439+4825_439+4829del
ENST00000641434.1:c.699-89_699-85del	ENSP00000493279.1:n.699-89_699-85del
ENST00000641464.1:c.449+926_449+930del	ENSP00000493438.1:n.449+926_449+930del
ENST00000641482.1:c.699-89_699-85del	ENSP00000493277.1:n.699-89_699-85del
ENST00000641503.1:c.585-89_585-85del	ENSP00000493304.1:n.585-89_585-85del
ENST00000641508.1:c.698+926_698+930del	ENSP00000493209.1:n.698+926_698+930del
ENST00000641509.1:c.439+4825_439+4829del	ENSP00000493459.1:n.439+4825_439+4829del
ENST00000641538.1:c.545-89_545-85del
ENST00000641590.1:c.585-89_585-85del	ENSP00000493132.1:n.585-89_585-85del
ENST00000641658.1:c.419-89_419-85del	ENSP00000492987.1:n.419-89_419-85del
ENST00000641686.2:c.699-89_699-85del MANE Select	ENSP00000493218.2:n.699-89_699-85del
ENST00000641690.1:c.553+3118_553+3122del	ENSP00000492966.1:n.553+3118_553+3122del
ENST00000641695.1:c.699-91_699-87del	ENSP00000493134.1:n.699-91_699-87del
ENST00000641742.1:c.554-89_554-85del	ENSP00000493315.1:n.554-89_554-85del
ENST00000641743.1:c.699-89_699-85del	ENSP00000493130.1:n.699-89_699-85del
ENST00000641748.1:c.699-89_699-85del	ENSP00000493330.1:n.699-89_699-85del
ENST00000641753.1:c.526-89_526-85del
ENST00000641774.1:c.584+926_584+930del	ENSP00000492960.1:n.584+926_584+930del
ENST00000641776.1:c.*251-89_*251-85del	ENSP00000493261.1:n.*251-89_*251-85del
ENST00000641830.1:c.35-89_35-85del
ENST00000641843.1:c.305-89_305-85del	ENSP00000493174.1:n.305-89_305-85del
ENST00000641869.1:c.4-89_4-85del
ENST00000641870.1:c.554-89_554-85del	ENSP00000493044.1:n.554-89_554-85del
ENST00000641882.1:c.440-89_440-85del	ENSP00000493301.1:n.440-89_440-85del
ENST00000641928.1:c.449+926_449+930del	ENSP00000493418.1:n.449+926_449+930del
ENST00000641949.1:c.553+3118_553+3122del	ENSP00000492891.1:n.553+3118_553+3122del
ENST00000642012.1:n.474_478del
ENST00000642034.1:c.585-89_585-85del	ENSP00000493285.1:n.585-89_585-85del
ENST00000642042.1:c.699-89_699-85del	ENSP00000493260.1:n.699-89_699-85del
ENST00000642078.1:c.419-89_419-85del	ENSP00000492885.1:n.419-89_419-85del
ENST00000642121.1:n.91-8110_91-8106del
ENST00000296468.7:c.699-89_699-85del	ENSP00000296468.3:n.699-89_699-85del
ENST00000505284.5:n.594-89_594-85del
ENST00000508441.1:n.566-89_566-85del
ENST00000509826.1:c.449+926_449+930del	ENSP00000421176.1:n.449+926_449+930del
ENST00000513559.5:c.564-89_564-85del	ENSP00000425000.1:n.564-89_564-85del
ENST00000515130.5:n.1145-89_1145-85del
NM_152778.2:c.699-89_699-85del	NP_689991.1:n.699-89_699-85del
XM_005262893.1:c.699-89_699-85del	XP_005262950.1:n.699-89_699-85del
XM_005262896.1:c.554-91_554-87del	XP_005262953.1:n.554-91_554-87del
XM_005262897.1:c.553+3118_553+3122del	XP_005262954.1:n.553+3118_553+3122del
XM_005262898.2:c.699-89_699-85del	XP_005262955.1:n.699-89_699-85del
XM_005262900.2:c.554-89_554-85del	XP_005262957.1:n.554-89_554-85del
XM_011531830.1:c.585-89_585-85del	XP_011530132.1:n.585-89_585-85del
XM_011531831.1:c.439+4825_439+4829del	XP_011530133.1:n.439+4825_439+4829del
XM_011531832.1:c.585-89_585-85del	XP_011530134.1:n.585-89_585-85del
XR_938717.1:n.776-89_776-85del
NM_001363520.1:c.553+3118_553+3122del	NP_001350449.1:n.553+3118_553+3122del
NM_001363521.1:c.439+4825_439+4829del	NP_001350450.1:n.439+4825_439+4829del
XM_005262898.3:c.699-89_699-85del	XP_005262955.1:n.699-89_699-85del
XM_017007989.1:c.553+3118_553+3122del	XP_016863478.1:n.553+3118_553+3122del
XM_024453981.1:c.564-89_564-85del	XP_024309749.1:n.564-89_564-85del
XM_024453982.1:c.450-89_450-85del	XP_024309750.1:n.450-89_450-85del
XM_024453983.1:c.304+4825_304+4829del	XP_024309751.1:n.304+4825_304+4829del
XR_001741194.1:n.776-89_776-85del
XR_001741195.1:n.662-89_662-85del
XR_001741196.1:n.630+3118_630+3122del
XR_001741197.1:n.631-89_631-85del
XR_001741198.2:n.631-89_631-85del
XR_001741199.1:n.631-89_631-85del
XR_938717.2:n.776-89_776-85del
NM_001363520.2:c.553+3118_553+3122del	NP_001350449.1:n.553+3118_553+3122del
NM_001363521.2:c.439+4825_439+4829del	NP_001350450.1:n.439+4825_439+4829del
NM_001371590.1:c.564-89_564-85del	NP_001358519.1:n.564-89_564-85del
NM_001371591.1:c.699-89_699-85del	NP_001358520.1:n.699-89_699-85del
NM_001371592.1:c.705-89_705-85del	NP_001358521.1:n.705-89_705-85del
NM_001371593.1:c.585-89_585-85del	NP_001358522.1:n.585-89_585-85del
NM_001371594.1:c.554-91_554-87del	NP_001358523.1:n.554-91_554-87del
NM_001371595.1:c.419-91_419-87del	NP_001358524.1:n.419-91_419-87del
NM_001371596.2:c.699-89_699-85del MANE Select	NP_001358525.1:n.699-89_699-85del
NM_152778.3:c.699-89_699-85del	NP_689991.1:n.699-89_699-85del
NM_152778.4:c.699-89_699-85del	NP_689991.1:n.699-89_699-85del