Canonical Allele Identifier: CA2763478585

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127922016_127922018del , CM000666.2:g.127922016_127922018del	GRCh38
NC_000004.11:g.128843171_128843173del , CM000666.1:g.128843171_128843173del	GRCh37
NC_000004.10:g.129062621_129062623del	NCBI36
NG_008657.1:g.48968_48970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.999-54_999-52del	ENSP00000296468.3:n.999-54_999-52del
ENST00000509826.2:c.*232-54_*232-52del	ENSP00000421176.2:n.*232-54_*232-52del
ENST00000513559.6:c.717-54_717-52del	ENSP00000425000.2:n.717-54_717-52del
ENST00000515130.6:c.864-246_864-244del	ENSP00000493056.1:n.864-246_864-244del
ENST00000641025.1:c.999-246_999-244del	ENSP00000493346.1:n.999-246_999-244del
ENST00000641092.1:c.798-246_798-244del	ENSP00000493392.1:n.798-246_798-244del
ENST00000641133.1:c.*313-54_*313-52del	ENSP00000493192.1:n.*313-54_*313-52del
ENST00000641146.1:n.865-54_865-52del
ENST00000641147.1:c.549-54_549-52del	ENSP00000493133.1:n.549-54_549-52del
ENST00000641178.1:c.864-54_864-52del	ENSP00000492989.1:n.864-54_864-52del
ENST00000641186.1:c.885-54_885-52del	ENSP00000493347.1:n.885-54_885-52del
ENST00000641228.1:c.798-246_798-244del	ENSP00000493194.1:n.798-246_798-244del
ENST00000641332.1:c.*164-246_*164-244del	ENSP00000493397.1:n.*164-246_*164-244del
ENST00000641340.1:c.*232-246_*232-244del	ENSP00000493191.1:n.*232-246_*232-244del
ENST00000641388.1:n.350-246_350-244del
ENST00000641393.1:c.549-54_549-52del	ENSP00000493197.1:n.549-54_549-52del
ENST00000641397.1:c.684-246_684-244del	ENSP00000493406.1:n.684-246_684-244del
ENST00000641413.1:c.28-246_28-244del
ENST00000641434.1:c.999-54_999-52del	ENSP00000493279.1:n.999-54_999-52del
ENST00000641464.1:c.*232-54_*232-52del	ENSP00000493438.1:n.*232-54_*232-52del
ENST00000641482.1:c.999-246_999-244del	ENSP00000493277.1:n.999-246_999-244del
ENST00000641508.1:c.*232-54_*232-52del	ENSP00000493209.1:n.*232-54_*232-52del
ENST00000641509.1:c.684-54_684-52del	ENSP00000493459.1:n.684-54_684-52del
ENST00000641538.1:c.710-54_710-52del
ENST00000641590.1:c.885-246_885-244del	ENSP00000493132.1:n.885-246_885-244del
ENST00000641658.1:c.*164-54_*164-52del	ENSP00000492987.1:n.*164-54_*164-52del
ENST00000641686.2:c.999-54_999-52del MANE Select	ENSP00000493218.2:n.999-54_999-52del
ENST00000641690.1:c.798-54_798-52del	ENSP00000492966.1:n.798-54_798-52del
ENST00000641742.1:c.*164-54_*164-52del	ENSP00000493315.1:n.*164-54_*164-52del
ENST00000641748.1:c.999-54_999-52del	ENSP00000493330.1:n.999-54_999-52del
ENST00000641753.1:c.826-54_826-52del
ENST00000641774.1:c.*232-35_*232-33del	ENSP00000492960.1:n.*232-35_*232-33del
ENST00000641830.1:c.335-246_335-244del
ENST00000641843.1:c.*164-246_*164-244del	ENSP00000493174.1:n.*164-246_*164-244del
ENST00000641869.1:c.304-246_304-244del
ENST00000641870.1:c.*164-246_*164-244del	ENSP00000493044.1:n.*164-246_*164-244del
ENST00000641882.1:c.*164-54_*164-52del	ENSP00000493301.1:n.*164-54_*164-52del
ENST00000641928.1:c.*232-246_*232-244del	ENSP00000493418.1:n.*232-246_*232-244del
ENST00000641949.1:c.554-1181_554-1179del	ENSP00000492891.1:n.554-1181_554-1179del
ENST00000642012.1:n.863-54_863-52del
ENST00000642034.1:c.885-246_885-244del	ENSP00000493285.1:n.885-246_885-244del
ENST00000642042.1:c.999-54_999-52del	ENSP00000493260.1:n.999-54_999-52del
ENST00000642078.1:c.*164-246_*164-244del	ENSP00000492885.1:n.*164-246_*164-244del
ENST00000296468.7:c.999-54_999-52del	ENSP00000296468.3:n.999-54_999-52del
ENST00000505284.5:n.894-246_894-244del
ENST00000509826.1:c.*232-54_*232-52del	ENSP00000421176.1:n.*232-54_*232-52del
ENST00000513559.5:c.864-54_864-52del	ENSP00000425000.1:n.864-54_864-52del
ENST00000515130.5:n.1445-246_1445-244del
NM_152778.2:c.999-54_999-52del	NP_689991.1:n.999-54_999-52del
XM_005262893.1:c.999-54_999-52del	XP_005262950.1:n.999-54_999-52del
XM_005262896.1:c.852-54_852-52del	XP_005262953.1:n.852-54_852-52del
XM_005262897.1:c.798-54_798-52del	XP_005262954.1:n.798-54_798-52del
XM_005262898.2:c.999-246_999-244del	XP_005262955.1:n.999-246_999-244del
XM_011531830.1:c.885-54_885-52del	XP_011530132.1:n.885-54_885-52del
XM_011531831.1:c.684-54_684-52del	XP_011530133.1:n.684-54_684-52del
XM_011531832.1:c.885-246_885-244del	XP_011530134.1:n.885-246_885-244del
XR_938717.1:n.1076-54_1076-52del
NM_001363520.1:c.798-54_798-52del	NP_001350449.1:n.798-54_798-52del
NM_001363521.1:c.684-54_684-52del	NP_001350450.1:n.684-54_684-52del
XM_005262898.3:c.999-246_999-244del	XP_005262955.1:n.999-246_999-244del
XM_017007989.1:c.798-246_798-244del	XP_016863478.1:n.798-246_798-244del
XM_024453981.1:c.864-54_864-52del	XP_024309749.1:n.864-54_864-52del
XM_024453982.1:c.750-54_750-52del	XP_024309750.1:n.750-54_750-52del
XM_024453983.1:c.549-54_549-52del	XP_024309751.1:n.549-54_549-52del
XR_001741194.1:n.1076-246_1076-244del
XR_001741195.1:n.962-246_962-244del
XR_001741196.1:n.875-246_875-244del
XR_001741197.1:n.931-54_931-52del
XR_001741198.2:n.931-246_931-244del
XR_001741199.1:n.931-246_931-244del
XR_938717.2:n.1076-54_1076-52del
NM_001363520.2:c.798-54_798-52del	NP_001350449.1:n.798-54_798-52del
NM_001363521.2:c.684-54_684-52del	NP_001350450.1:n.684-54_684-52del
NM_001371590.1:c.864-54_864-52del	NP_001358519.1:n.864-54_864-52del
NM_001371591.1:c.999-54_999-52del	NP_001358520.1:n.999-54_999-52del
NM_001371592.1:c.1005-54_1005-52del	NP_001358521.1:n.1005-54_1005-52del
NM_001371593.1:c.885-54_885-52del	NP_001358522.1:n.885-54_885-52del
NM_001371594.1:c.852-54_852-52del	NP_001358523.1:n.852-54_852-52del
NM_001371595.1:c.717-54_717-52del	NP_001358524.1:n.717-54_717-52del
NM_001371596.2:c.999-54_999-52del MANE Select	NP_001358525.1:n.999-54_999-52del
NM_152778.3:c.999-54_999-52del	NP_689991.1:n.999-54_999-52del
NM_152778.4:c.999-54_999-52del	NP_689991.1:n.999-54_999-52del