Canonical Allele Identifier: CA2763479465

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938945_127938946insAG , CM000666.2:g.127938945_127938946insAG	GRCh38
NC_000004.11:g.128860100_128860101insAG , CM000666.1:g.128860100_128860101insAG	GRCh37
NC_000004.10:g.129079550_129079551insAG	NCBI36
NG_008657.1:g.32039_32040insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.699-108_699-107insCT	ENSP00000296468.3:n.699-108_699-107insCT
ENST00000505284.6:n.915-108_915-107insCT
ENST00000509826.2:c.698+907_698+908insCT	ENSP00000421176.2:n.698+907_698+908insCT
ENST00000513559.6:c.419-110_419-109insCT	ENSP00000425000.2:n.419-110_419-109insCT
ENST00000515130.6:c.564-108_564-107insCT	ENSP00000493056.1:n.564-108_564-107insCT
ENST00000641025.1:c.699-108_699-107insCT	ENSP00000493346.1:n.699-108_699-107insCT
ENST00000641092.1:c.553+3099_553+3100insCT	ENSP00000493392.1:n.553+3099_553+3100insCT
ENST00000641133.1:c.*13-108_*13-107insCT	ENSP00000493192.1:n.*13-108_*13-107insCT
ENST00000641134.1:c.419-108_419-107insCT	ENSP00000492925.1:n.419-108_419-107insCT
ENST00000641147.1:c.304+4806_304+4807insCT	ENSP00000493133.1:n.304+4806_304+4807insCT
ENST00000641178.1:c.564-108_564-107insCT	ENSP00000492989.1:n.564-108_564-107insCT
ENST00000641186.1:c.585-108_585-107insCT	ENSP00000493347.1:n.585-108_585-107insCT
ENST00000641228.1:c.553+3099_553+3100insCT	ENSP00000493194.1:n.553+3099_553+3100insCT
ENST00000641243.1:c.554-108_554-107insCT	ENSP00000493083.1:n.554-108_554-107insCT
ENST00000641264.1:c.*496-108_*496-107insCT	ENSP00000492908.1:n.*496-108_*496-107insCT
ENST00000641332.1:c.554-108_554-107insCT	ENSP00000493397.1:n.554-108_554-107insCT
ENST00000641340.1:c.698+907_698+908insCT	ENSP00000493191.1:n.698+907_698+908insCT
ENST00000641369.1:c.195-108_195-107insCT	ENSP00000493037.1:n.195-108_195-107insCT
ENST00000641393.1:c.304+4806_304+4807insCT	ENSP00000493197.1:n.304+4806_304+4807insCT
ENST00000641397.1:c.439+4806_439+4807insCT	ENSP00000493406.1:n.439+4806_439+4807insCT
ENST00000641434.1:c.699-108_699-107insCT	ENSP00000493279.1:n.699-108_699-107insCT
ENST00000641464.1:c.449+907_449+908insCT	ENSP00000493438.1:n.449+907_449+908insCT
ENST00000641482.1:c.699-108_699-107insCT	ENSP00000493277.1:n.699-108_699-107insCT
ENST00000641503.1:c.585-108_585-107insCT	ENSP00000493304.1:n.585-108_585-107insCT
ENST00000641508.1:c.698+907_698+908insCT	ENSP00000493209.1:n.698+907_698+908insCT
ENST00000641509.1:c.439+4806_439+4807insCT	ENSP00000493459.1:n.439+4806_439+4807insCT
ENST00000641538.1:c.545-108_545-107insCT
ENST00000641590.1:c.585-108_585-107insCT	ENSP00000493132.1:n.585-108_585-107insCT
ENST00000641658.1:c.419-108_419-107insCT	ENSP00000492987.1:n.419-108_419-107insCT
ENST00000641686.2:c.699-108_699-107insCT MANE Select	ENSP00000493218.2:n.699-108_699-107insCT
ENST00000641690.1:c.553+3099_553+3100insCT	ENSP00000492966.1:n.553+3099_553+3100insCT
ENST00000641695.1:c.699-110_699-109insCT	ENSP00000493134.1:n.699-110_699-109insCT
ENST00000641742.1:c.554-108_554-107insCT	ENSP00000493315.1:n.554-108_554-107insCT
ENST00000641743.1:c.699-108_699-107insCT	ENSP00000493130.1:n.699-108_699-107insCT
ENST00000641748.1:c.699-108_699-107insCT	ENSP00000493330.1:n.699-108_699-107insCT
ENST00000641753.1:c.526-108_526-107insCT
ENST00000641774.1:c.584+907_584+908insCT	ENSP00000492960.1:n.584+907_584+908insCT
ENST00000641776.1:c.*251-108_*251-107insCT	ENSP00000493261.1:n.*251-108_*251-107insCT
ENST00000641830.1:c.35-108_35-107insCT
ENST00000641843.1:c.305-108_305-107insCT	ENSP00000493174.1:n.305-108_305-107insCT
ENST00000641869.1:c.4-108_4-107insCT
ENST00000641870.1:c.554-108_554-107insCT	ENSP00000493044.1:n.554-108_554-107insCT
ENST00000641882.1:c.440-108_440-107insCT	ENSP00000493301.1:n.440-108_440-107insCT
ENST00000641928.1:c.449+907_449+908insCT	ENSP00000493418.1:n.449+907_449+908insCT
ENST00000641949.1:c.553+3099_553+3100insCT	ENSP00000492891.1:n.553+3099_553+3100insCT
ENST00000642012.1:n.455_456insCT
ENST00000642034.1:c.585-108_585-107insCT	ENSP00000493285.1:n.585-108_585-107insCT
ENST00000642042.1:c.699-108_699-107insCT	ENSP00000493260.1:n.699-108_699-107insCT
ENST00000642078.1:c.419-108_419-107insCT	ENSP00000492885.1:n.419-108_419-107insCT
ENST00000642121.1:n.91-8129_91-8128insCT
ENST00000296468.7:c.699-108_699-107insCT	ENSP00000296468.3:n.699-108_699-107insCT
ENST00000505284.5:n.594-108_594-107insCT
ENST00000508441.1:n.566-108_566-107insCT
ENST00000509826.1:c.449+907_449+908insCT	ENSP00000421176.1:n.449+907_449+908insCT
ENST00000513559.5:c.564-108_564-107insCT	ENSP00000425000.1:n.564-108_564-107insCT
ENST00000515130.5:n.1145-108_1145-107insCT
NM_152778.2:c.699-108_699-107insCT	NP_689991.1:n.699-108_699-107insCT
XM_005262893.1:c.699-108_699-107insCT	XP_005262950.1:n.699-108_699-107insCT
XM_005262896.1:c.554-110_554-109insCT	XP_005262953.1:n.554-110_554-109insCT
XM_005262897.1:c.553+3099_553+3100insCT	XP_005262954.1:n.553+3099_553+3100insCT
XM_005262898.2:c.699-108_699-107insCT	XP_005262955.1:n.699-108_699-107insCT
XM_005262900.2:c.554-108_554-107insCT	XP_005262957.1:n.554-108_554-107insCT
XM_011531830.1:c.585-108_585-107insCT	XP_011530132.1:n.585-108_585-107insCT
XM_011531831.1:c.439+4806_439+4807insCT	XP_011530133.1:n.439+4806_439+4807insCT
XM_011531832.1:c.585-108_585-107insCT	XP_011530134.1:n.585-108_585-107insCT
XR_938717.1:n.776-108_776-107insCT
NM_001363520.1:c.553+3099_553+3100insCT	NP_001350449.1:n.553+3099_553+3100insCT
NM_001363521.1:c.439+4806_439+4807insCT	NP_001350450.1:n.439+4806_439+4807insCT
XM_005262898.3:c.699-108_699-107insCT	XP_005262955.1:n.699-108_699-107insCT
XM_017007989.1:c.553+3099_553+3100insCT	XP_016863478.1:n.553+3099_553+3100insCT
XM_024453981.1:c.564-108_564-107insCT	XP_024309749.1:n.564-108_564-107insCT
XM_024453982.1:c.450-108_450-107insCT	XP_024309750.1:n.450-108_450-107insCT
XM_024453983.1:c.304+4806_304+4807insCT	XP_024309751.1:n.304+4806_304+4807insCT
XR_001741194.1:n.776-108_776-107insCT
XR_001741195.1:n.662-108_662-107insCT
XR_001741196.1:n.630+3099_630+3100insCT
XR_001741197.1:n.631-108_631-107insCT
XR_001741198.2:n.631-108_631-107insCT
XR_001741199.1:n.631-108_631-107insCT
XR_938717.2:n.776-108_776-107insCT
NM_001363520.2:c.553+3099_553+3100insCT	NP_001350449.1:n.553+3099_553+3100insCT
NM_001363521.2:c.439+4806_439+4807insCT	NP_001350450.1:n.439+4806_439+4807insCT
NM_001371590.1:c.564-108_564-107insCT	NP_001358519.1:n.564-108_564-107insCT
NM_001371591.1:c.699-108_699-107insCT	NP_001358520.1:n.699-108_699-107insCT
NM_001371592.1:c.705-108_705-107insCT	NP_001358521.1:n.705-108_705-107insCT
NM_001371593.1:c.585-108_585-107insCT	NP_001358522.1:n.585-108_585-107insCT
NM_001371594.1:c.554-110_554-109insCT	NP_001358523.1:n.554-110_554-109insCT
NM_001371595.1:c.419-110_419-109insCT	NP_001358524.1:n.419-110_419-109insCT
NM_001371596.2:c.699-108_699-107insCT MANE Select	NP_001358525.1:n.699-108_699-107insCT
NM_152778.3:c.699-108_699-107insCT	NP_689991.1:n.699-108_699-107insCT
NM_152778.4:c.699-108_699-107insCT	NP_689991.1:n.699-108_699-107insCT