Canonical Allele Identifier: CA2763479468

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938948_127938949insAG , CM000666.2:g.127938948_127938949insAG	GRCh38
NC_000004.11:g.128860103_128860104insAG , CM000666.1:g.128860103_128860104insAG	GRCh37
NC_000004.10:g.129079553_129079554insAG	NCBI36
NG_008657.1:g.32036_32037insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.699-111_699-110insCT	ENSP00000296468.3:n.699-111_699-110insCT
ENST00000505284.6:n.915-111_915-110insCT
ENST00000509826.2:c.698+904_698+905insCT	ENSP00000421176.2:n.698+904_698+905insCT
ENST00000513559.6:c.419-113_419-112insCT	ENSP00000425000.2:n.419-113_419-112insCT
ENST00000515130.6:c.564-111_564-110insCT	ENSP00000493056.1:n.564-111_564-110insCT
ENST00000641025.1:c.699-111_699-110insCT	ENSP00000493346.1:n.699-111_699-110insCT
ENST00000641092.1:c.553+3096_553+3097insCT	ENSP00000493392.1:n.553+3096_553+3097insCT
ENST00000641133.1:c.*13-111_*13-110insCT	ENSP00000493192.1:n.*13-111_*13-110insCT
ENST00000641134.1:c.419-111_419-110insCT	ENSP00000492925.1:n.419-111_419-110insCT
ENST00000641147.1:c.304+4803_304+4804insCT	ENSP00000493133.1:n.304+4803_304+4804insCT
ENST00000641178.1:c.564-111_564-110insCT	ENSP00000492989.1:n.564-111_564-110insCT
ENST00000641186.1:c.585-111_585-110insCT	ENSP00000493347.1:n.585-111_585-110insCT
ENST00000641228.1:c.553+3096_553+3097insCT	ENSP00000493194.1:n.553+3096_553+3097insCT
ENST00000641243.1:c.554-111_554-110insCT	ENSP00000493083.1:n.554-111_554-110insCT
ENST00000641264.1:c.*496-111_*496-110insCT	ENSP00000492908.1:n.*496-111_*496-110insCT
ENST00000641332.1:c.554-111_554-110insCT	ENSP00000493397.1:n.554-111_554-110insCT
ENST00000641340.1:c.698+904_698+905insCT	ENSP00000493191.1:n.698+904_698+905insCT
ENST00000641369.1:c.195-111_195-110insCT	ENSP00000493037.1:n.195-111_195-110insCT
ENST00000641393.1:c.304+4803_304+4804insCT	ENSP00000493197.1:n.304+4803_304+4804insCT
ENST00000641397.1:c.439+4803_439+4804insCT	ENSP00000493406.1:n.439+4803_439+4804insCT
ENST00000641434.1:c.699-111_699-110insCT	ENSP00000493279.1:n.699-111_699-110insCT
ENST00000641464.1:c.449+904_449+905insCT	ENSP00000493438.1:n.449+904_449+905insCT
ENST00000641482.1:c.699-111_699-110insCT	ENSP00000493277.1:n.699-111_699-110insCT
ENST00000641503.1:c.585-111_585-110insCT	ENSP00000493304.1:n.585-111_585-110insCT
ENST00000641508.1:c.698+904_698+905insCT	ENSP00000493209.1:n.698+904_698+905insCT
ENST00000641509.1:c.439+4803_439+4804insCT	ENSP00000493459.1:n.439+4803_439+4804insCT
ENST00000641538.1:c.545-111_545-110insCT
ENST00000641590.1:c.585-111_585-110insCT	ENSP00000493132.1:n.585-111_585-110insCT
ENST00000641658.1:c.419-111_419-110insCT	ENSP00000492987.1:n.419-111_419-110insCT
ENST00000641686.2:c.699-111_699-110insCT MANE Select	ENSP00000493218.2:n.699-111_699-110insCT
ENST00000641690.1:c.553+3096_553+3097insCT	ENSP00000492966.1:n.553+3096_553+3097insCT
ENST00000641695.1:c.699-113_699-112insCT	ENSP00000493134.1:n.699-113_699-112insCT
ENST00000641742.1:c.554-111_554-110insCT	ENSP00000493315.1:n.554-111_554-110insCT
ENST00000641743.1:c.699-111_699-110insCT	ENSP00000493130.1:n.699-111_699-110insCT
ENST00000641748.1:c.699-111_699-110insCT	ENSP00000493330.1:n.699-111_699-110insCT
ENST00000641753.1:c.526-111_526-110insCT
ENST00000641774.1:c.584+904_584+905insCT	ENSP00000492960.1:n.584+904_584+905insCT
ENST00000641776.1:c.*251-111_*251-110insCT	ENSP00000493261.1:n.*251-111_*251-110insCT
ENST00000641830.1:c.35-111_35-110insCT
ENST00000641843.1:c.305-111_305-110insCT	ENSP00000493174.1:n.305-111_305-110insCT
ENST00000641869.1:c.4-111_4-110insCT
ENST00000641870.1:c.554-111_554-110insCT	ENSP00000493044.1:n.554-111_554-110insCT
ENST00000641882.1:c.440-111_440-110insCT	ENSP00000493301.1:n.440-111_440-110insCT
ENST00000641928.1:c.449+904_449+905insCT	ENSP00000493418.1:n.449+904_449+905insCT
ENST00000641949.1:c.553+3096_553+3097insCT	ENSP00000492891.1:n.553+3096_553+3097insCT
ENST00000642012.1:n.452_453insCT
ENST00000642034.1:c.585-111_585-110insCT	ENSP00000493285.1:n.585-111_585-110insCT
ENST00000642042.1:c.699-111_699-110insCT	ENSP00000493260.1:n.699-111_699-110insCT
ENST00000642078.1:c.419-111_419-110insCT	ENSP00000492885.1:n.419-111_419-110insCT
ENST00000642121.1:n.91-8132_91-8131insCT
ENST00000296468.7:c.699-111_699-110insCT	ENSP00000296468.3:n.699-111_699-110insCT
ENST00000505284.5:n.594-111_594-110insCT
ENST00000508441.1:n.566-111_566-110insCT
ENST00000509826.1:c.449+904_449+905insCT	ENSP00000421176.1:n.449+904_449+905insCT
ENST00000513559.5:c.564-111_564-110insCT	ENSP00000425000.1:n.564-111_564-110insCT
ENST00000515130.5:n.1145-111_1145-110insCT
NM_152778.2:c.699-111_699-110insCT	NP_689991.1:n.699-111_699-110insCT
XM_005262893.1:c.699-111_699-110insCT	XP_005262950.1:n.699-111_699-110insCT
XM_005262896.1:c.554-113_554-112insCT	XP_005262953.1:n.554-113_554-112insCT
XM_005262897.1:c.553+3096_553+3097insCT	XP_005262954.1:n.553+3096_553+3097insCT
XM_005262898.2:c.699-111_699-110insCT	XP_005262955.1:n.699-111_699-110insCT
XM_005262900.2:c.554-111_554-110insCT	XP_005262957.1:n.554-111_554-110insCT
XM_011531830.1:c.585-111_585-110insCT	XP_011530132.1:n.585-111_585-110insCT
XM_011531831.1:c.439+4803_439+4804insCT	XP_011530133.1:n.439+4803_439+4804insCT
XM_011531832.1:c.585-111_585-110insCT	XP_011530134.1:n.585-111_585-110insCT
XR_938717.1:n.776-111_776-110insCT
NM_001363520.1:c.553+3096_553+3097insCT	NP_001350449.1:n.553+3096_553+3097insCT
NM_001363521.1:c.439+4803_439+4804insCT	NP_001350450.1:n.439+4803_439+4804insCT
XM_005262898.3:c.699-111_699-110insCT	XP_005262955.1:n.699-111_699-110insCT
XM_017007989.1:c.553+3096_553+3097insCT	XP_016863478.1:n.553+3096_553+3097insCT
XM_024453981.1:c.564-111_564-110insCT	XP_024309749.1:n.564-111_564-110insCT
XM_024453982.1:c.450-111_450-110insCT	XP_024309750.1:n.450-111_450-110insCT
XM_024453983.1:c.304+4803_304+4804insCT	XP_024309751.1:n.304+4803_304+4804insCT
XR_001741194.1:n.776-111_776-110insCT
XR_001741195.1:n.662-111_662-110insCT
XR_001741196.1:n.630+3096_630+3097insCT
XR_001741197.1:n.631-111_631-110insCT
XR_001741198.2:n.631-111_631-110insCT
XR_001741199.1:n.631-111_631-110insCT
XR_938717.2:n.776-111_776-110insCT
NM_001363520.2:c.553+3096_553+3097insCT	NP_001350449.1:n.553+3096_553+3097insCT
NM_001363521.2:c.439+4803_439+4804insCT	NP_001350450.1:n.439+4803_439+4804insCT
NM_001371590.1:c.564-111_564-110insCT	NP_001358519.1:n.564-111_564-110insCT
NM_001371591.1:c.699-111_699-110insCT	NP_001358520.1:n.699-111_699-110insCT
NM_001371592.1:c.705-111_705-110insCT	NP_001358521.1:n.705-111_705-110insCT
NM_001371593.1:c.585-111_585-110insCT	NP_001358522.1:n.585-111_585-110insCT
NM_001371594.1:c.554-113_554-112insCT	NP_001358523.1:n.554-113_554-112insCT
NM_001371595.1:c.419-113_419-112insCT	NP_001358524.1:n.419-113_419-112insCT
NM_001371596.2:c.699-111_699-110insCT MANE Select	NP_001358525.1:n.699-111_699-110insCT
NM_152778.3:c.699-111_699-110insCT	NP_689991.1:n.699-111_699-110insCT
NM_152778.4:c.699-111_699-110insCT	NP_689991.1:n.699-111_699-110insCT