Canonical Allele Identifier: CA1492804551

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921925_127921926delinsAC , CM000666.2:g.127921925_127921926delinsAC	GRCh38
NC_000004.11:g.128843080_128843081delinsAC , CM000666.1:g.128843080_128843081delinsAC	GRCh37
NC_000004.10:g.129062530_129062531delinsAC	NCBI36
NG_008657.1:g.49059_49060delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1036_1037delinsGT	ENSP00000296468.3:p.Val346=
ENST00000509826.2:c.*269_*270delinsGT	ENSP00000421176.2:n.*269_*270delinsGT
ENST00000513559.6:c.754_755delinsGT	ENSP00000425000.2:p.Val252=
ENST00000515130.6:c.864-155_864-154delinsGT	ENSP00000493056.1:n.864-155_864-154delinsGT
ENST00000641025.1:c.999-155_999-154delinsGT	ENSP00000493346.1:n.999-155_999-154delinsGT
ENST00000641092.1:c.798-155_798-154delinsGT	ENSP00000493392.1:n.798-155_798-154delinsGT
ENST00000641133.1:c.*350_*351delinsGT	ENSP00000493192.1:n.*350_*351delinsGT
ENST00000641146.1:n.902_903delinsGT
ENST00000641147.1:c.586_587delinsGT	ENSP00000493133.1:p.Val196=
ENST00000641178.1:c.901_902delinsGT	ENSP00000492989.1:p.Val301=
ENST00000641186.1:c.922_923delinsGT	ENSP00000493347.1:p.Val308=
ENST00000641228.1:c.798-155_798-154delinsGT	ENSP00000493194.1:n.798-155_798-154delinsGT
ENST00000641332.1:c.*164-155_*164-154delinsGT	ENSP00000493397.1:n.*164-155_*164-154delinsGT
ENST00000641340.1:c.*232-155_*232-154delinsGT	ENSP00000493191.1:n.*232-155_*232-154delinsGT
ENST00000641388.1:n.350-155_350-154delinsGT
ENST00000641393.1:c.586_587delinsGT	ENSP00000493197.1:p.Val196=
ENST00000641397.1:c.684-155_684-154delinsGT	ENSP00000493406.1:n.684-155_684-154delinsGT
ENST00000641413.1:c.28-155_28-154delinsGT
ENST00000641434.1:c.1036_1037delinsGT	ENSP00000493279.1:p.Val346=
ENST00000641464.1:c.*269_*270delinsGT	ENSP00000493438.1:n.*269_*270delinsGT
ENST00000641482.1:c.999-155_999-154delinsGT	ENSP00000493277.1:n.999-155_999-154delinsGT
ENST00000641508.1:c.*269_*270delinsGT	ENSP00000493209.1:n.*269_*270delinsGT
ENST00000641509.1:c.721_722delinsGT	ENSP00000493459.1:p.Val241=
ENST00000641590.1:c.885-155_885-154delinsGT	ENSP00000493132.1:n.885-155_885-154delinsGT
ENST00000641658.1:c.*201_*202delinsGT	ENSP00000492987.1:n.*201_*202delinsGT
ENST00000641686.2:c.1036_1037delinsGT MANE Select	ENSP00000493218.2:p.Val346=
ENST00000641690.1:c.835_836delinsGT	ENSP00000492966.1:p.Val279=
ENST00000641742.1:c.*201_*202delinsGT	ENSP00000493315.1:n.*201_*202delinsGT
ENST00000641748.1:c.1036_1037delinsGT	ENSP00000493330.1:p.Val346=
ENST00000641753.1:c.863_864delinsGT
ENST00000641774.1:c.*288_*289delinsGT	ENSP00000492960.1:n.*288_*289delinsGT
ENST00000641830.1:c.335-155_335-154delinsGT
ENST00000641843.1:c.*164-155_*164-154delinsGT	ENSP00000493174.1:n.*164-155_*164-154delinsGT
ENST00000641869.1:c.304-155_304-154delinsGT
ENST00000641870.1:c.*164-155_*164-154delinsGT	ENSP00000493044.1:n.*164-155_*164-154delinsGT
ENST00000641882.1:c.*201_*202delinsGT	ENSP00000493301.1:n.*201_*202delinsGT
ENST00000641928.1:c.*232-155_*232-154delinsGT	ENSP00000493418.1:n.*232-155_*232-154delinsGT
ENST00000641949.1:c.554-1090_554-1089delinsGT	ENSP00000492891.1:n.554-1090_554-1089delinsGT
ENST00000642012.1:n.900_901delinsGT
ENST00000642034.1:c.885-155_885-154delinsGT	ENSP00000493285.1:n.885-155_885-154delinsGT
ENST00000642042.1:c.1036_1037delinsGT	ENSP00000493260.1:p.Val346=
ENST00000642078.1:c.*164-155_*164-154delinsGT	ENSP00000492885.1:n.*164-155_*164-154delinsGT
ENST00000296468.7:c.1036_1037delinsGT	ENSP00000296468.3:p.Val346=
ENST00000504126.1:n.64_65delinsGT
ENST00000505284.5:n.894-155_894-154delinsGT
ENST00000509826.1:c.*269_*270delinsGT	ENSP00000421176.1:n.*269_*270delinsGT
ENST00000513559.5:c.901_902delinsGT	ENSP00000425000.1:p.Val301=
ENST00000515130.5:n.1445-155_1445-154delinsGT
NM_152778.2:c.1036_1037delinsGT	NP_689991.1:p.Val346=
XM_005262893.1:c.1036_1037delinsGT	XP_005262950.1:p.Val346=
XM_005262896.1:c.889_890delinsGT	XP_005262953.1:p.Val297=
XM_005262897.1:c.835_836delinsGT	XP_005262954.1:p.Val279=
XM_005262898.2:c.999-155_999-154delinsGT	XP_005262955.1:n.999-155_999-154delinsGT
XM_011531830.1:c.922_923delinsGT	XP_011530132.1:p.Val308=
XM_011531831.1:c.721_722delinsGT	XP_011530133.1:p.Val241=
XM_011531832.1:c.885-155_885-154delinsGT	XP_011530134.1:n.885-155_885-154delinsGT
XR_938717.1:n.1113_1114delinsGT
NM_001363520.1:c.835_836delinsGT	NP_001350449.1:p.Val279=
NM_001363521.1:c.721_722delinsGT	NP_001350450.1:p.Val241=
XM_005262898.3:c.999-155_999-154delinsGT	XP_005262955.1:n.999-155_999-154delinsGT
XM_017007989.1:c.798-155_798-154delinsGT	XP_016863478.1:n.798-155_798-154delinsGT
XM_024453981.1:c.901_902delinsGT	XP_024309749.1:p.Val301=
XM_024453982.1:c.787_788delinsGT	XP_024309750.1:p.Val263=
XM_024453983.1:c.586_587delinsGT	XP_024309751.1:p.Val196=
XR_001741194.1:n.1076-155_1076-154delinsGT
XR_001741195.1:n.962-155_962-154delinsGT
XR_001741196.1:n.875-155_875-154delinsGT
XR_001741197.1:n.968_969delinsGT
XR_001741198.2:n.931-155_931-154delinsGT
XR_001741199.1:n.931-155_931-154delinsGT
XR_938717.2:n.1113_1114delinsGT
NM_001363520.2:c.835_836delinsGT	NP_001350449.1:p.Val279=
NM_001363521.2:c.721_722delinsGT	NP_001350450.1:p.Val241=
NM_001371590.1:c.901_902delinsGT	NP_001358519.1:p.Val301=
NM_001371591.1:c.1036_1037delinsGT	NP_001358520.1:p.Val346=
NM_001371592.1:c.1042_1043delinsGT	NP_001358521.1:p.Val348=
NM_001371593.1:c.922_923delinsGT	NP_001358522.1:p.Val308=
NM_001371594.1:c.889_890delinsGT	NP_001358523.1:p.Val297=
NM_001371595.1:c.754_755delinsGT	NP_001358524.1:p.Val252=
NM_001371596.2:c.1036_1037delinsGT MANE Select	NP_001358525.1:p.Val346=
NM_152778.3:c.1036_1037delinsGT	NP_689991.1:p.Val346=
NM_152778.4:c.1036_1037delinsGT	NP_689991.1:p.Val346=