Canonical Allele Identifier: CA2763478586

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127922018_127922021del , CM000666.2:g.127922018_127922021del	GRCh38
NC_000004.11:g.128843173_128843176del , CM000666.1:g.128843173_128843176del	GRCh37
NC_000004.10:g.129062623_129062626del	NCBI36
NG_008657.1:g.48966_48969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.999-56_999-53del	ENSP00000296468.3:n.999-56_999-53del
ENST00000509826.2:c.*232-56_*232-53del	ENSP00000421176.2:n.*232-56_*232-53del
ENST00000513559.6:c.717-56_717-53del	ENSP00000425000.2:n.717-56_717-53del
ENST00000515130.6:c.864-248_864-245del	ENSP00000493056.1:n.864-248_864-245del
ENST00000641025.1:c.999-248_999-245del	ENSP00000493346.1:n.999-248_999-245del
ENST00000641092.1:c.798-248_798-245del	ENSP00000493392.1:n.798-248_798-245del
ENST00000641133.1:c.*313-56_*313-53del	ENSP00000493192.1:n.*313-56_*313-53del
ENST00000641146.1:n.865-56_865-53del
ENST00000641147.1:c.549-56_549-53del	ENSP00000493133.1:n.549-56_549-53del
ENST00000641178.1:c.864-56_864-53del	ENSP00000492989.1:n.864-56_864-53del
ENST00000641186.1:c.885-56_885-53del	ENSP00000493347.1:n.885-56_885-53del
ENST00000641228.1:c.798-248_798-245del	ENSP00000493194.1:n.798-248_798-245del
ENST00000641332.1:c.*164-248_*164-245del	ENSP00000493397.1:n.*164-248_*164-245del
ENST00000641340.1:c.*232-248_*232-245del	ENSP00000493191.1:n.*232-248_*232-245del
ENST00000641388.1:n.350-248_350-245del
ENST00000641393.1:c.549-56_549-53del	ENSP00000493197.1:n.549-56_549-53del
ENST00000641397.1:c.684-248_684-245del	ENSP00000493406.1:n.684-248_684-245del
ENST00000641413.1:c.28-248_28-245del
ENST00000641434.1:c.999-56_999-53del	ENSP00000493279.1:n.999-56_999-53del
ENST00000641464.1:c.*232-56_*232-53del	ENSP00000493438.1:n.*232-56_*232-53del
ENST00000641482.1:c.999-248_999-245del	ENSP00000493277.1:n.999-248_999-245del
ENST00000641508.1:c.*232-56_*232-53del	ENSP00000493209.1:n.*232-56_*232-53del
ENST00000641509.1:c.684-56_684-53del	ENSP00000493459.1:n.684-56_684-53del
ENST00000641538.1:c.710-56_710-53del
ENST00000641590.1:c.885-248_885-245del	ENSP00000493132.1:n.885-248_885-245del
ENST00000641658.1:c.*164-56_*164-53del	ENSP00000492987.1:n.*164-56_*164-53del
ENST00000641686.2:c.999-56_999-53del MANE Select	ENSP00000493218.2:n.999-56_999-53del
ENST00000641690.1:c.798-56_798-53del	ENSP00000492966.1:n.798-56_798-53del
ENST00000641742.1:c.*164-56_*164-53del	ENSP00000493315.1:n.*164-56_*164-53del
ENST00000641748.1:c.999-56_999-53del	ENSP00000493330.1:n.999-56_999-53del
ENST00000641753.1:c.826-56_826-53del
ENST00000641774.1:c.*232-37_*232-34del	ENSP00000492960.1:n.*232-37_*232-34del
ENST00000641830.1:c.335-248_335-245del
ENST00000641843.1:c.*164-248_*164-245del	ENSP00000493174.1:n.*164-248_*164-245del
ENST00000641869.1:c.304-248_304-245del
ENST00000641870.1:c.*164-248_*164-245del	ENSP00000493044.1:n.*164-248_*164-245del
ENST00000641882.1:c.*164-56_*164-53del	ENSP00000493301.1:n.*164-56_*164-53del
ENST00000641928.1:c.*232-248_*232-245del	ENSP00000493418.1:n.*232-248_*232-245del
ENST00000641949.1:c.554-1183_554-1180del	ENSP00000492891.1:n.554-1183_554-1180del
ENST00000642012.1:n.863-56_863-53del
ENST00000642034.1:c.885-248_885-245del	ENSP00000493285.1:n.885-248_885-245del
ENST00000642042.1:c.999-56_999-53del	ENSP00000493260.1:n.999-56_999-53del
ENST00000642078.1:c.*164-248_*164-245del	ENSP00000492885.1:n.*164-248_*164-245del
ENST00000296468.7:c.999-56_999-53del	ENSP00000296468.3:n.999-56_999-53del
ENST00000505284.5:n.894-248_894-245del
ENST00000509826.1:c.*232-56_*232-53del	ENSP00000421176.1:n.*232-56_*232-53del
ENST00000513559.5:c.864-56_864-53del	ENSP00000425000.1:n.864-56_864-53del
ENST00000515130.5:n.1445-248_1445-245del
NM_152778.2:c.999-56_999-53del	NP_689991.1:n.999-56_999-53del
XM_005262893.1:c.999-56_999-53del	XP_005262950.1:n.999-56_999-53del
XM_005262896.1:c.852-56_852-53del	XP_005262953.1:n.852-56_852-53del
XM_005262897.1:c.798-56_798-53del	XP_005262954.1:n.798-56_798-53del
XM_005262898.2:c.999-248_999-245del	XP_005262955.1:n.999-248_999-245del
XM_011531830.1:c.885-56_885-53del	XP_011530132.1:n.885-56_885-53del
XM_011531831.1:c.684-56_684-53del	XP_011530133.1:n.684-56_684-53del
XM_011531832.1:c.885-248_885-245del	XP_011530134.1:n.885-248_885-245del
XR_938717.1:n.1076-56_1076-53del
NM_001363520.1:c.798-56_798-53del	NP_001350449.1:n.798-56_798-53del
NM_001363521.1:c.684-56_684-53del	NP_001350450.1:n.684-56_684-53del
XM_005262898.3:c.999-248_999-245del	XP_005262955.1:n.999-248_999-245del
XM_017007989.1:c.798-248_798-245del	XP_016863478.1:n.798-248_798-245del
XM_024453981.1:c.864-56_864-53del	XP_024309749.1:n.864-56_864-53del
XM_024453982.1:c.750-56_750-53del	XP_024309750.1:n.750-56_750-53del
XM_024453983.1:c.549-56_549-53del	XP_024309751.1:n.549-56_549-53del
XR_001741194.1:n.1076-248_1076-245del
XR_001741195.1:n.962-248_962-245del
XR_001741196.1:n.875-248_875-245del
XR_001741197.1:n.931-56_931-53del
XR_001741198.2:n.931-248_931-245del
XR_001741199.1:n.931-248_931-245del
XR_938717.2:n.1076-56_1076-53del
NM_001363520.2:c.798-56_798-53del	NP_001350449.1:n.798-56_798-53del
NM_001363521.2:c.684-56_684-53del	NP_001350450.1:n.684-56_684-53del
NM_001371590.1:c.864-56_864-53del	NP_001358519.1:n.864-56_864-53del
NM_001371591.1:c.999-56_999-53del	NP_001358520.1:n.999-56_999-53del
NM_001371592.1:c.1005-56_1005-53del	NP_001358521.1:n.1005-56_1005-53del
NM_001371593.1:c.885-56_885-53del	NP_001358522.1:n.885-56_885-53del
NM_001371594.1:c.852-56_852-53del	NP_001358523.1:n.852-56_852-53del
NM_001371595.1:c.717-56_717-53del	NP_001358524.1:n.717-56_717-53del
NM_001371596.2:c.999-56_999-53del MANE Select	NP_001358525.1:n.999-56_999-53del
NM_152778.3:c.999-56_999-53del	NP_689991.1:n.999-56_999-53del
NM_152778.4:c.999-56_999-53del	NP_689991.1:n.999-56_999-53del