Canonical Allele Identifier: CA2672041851

Gene: MFSD8

Linked Data

• gnomAD v4: 4-127921608-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921609_127921610del , CM000666.2:g.127921609_127921610del	GRCh38
NC_000004.11:g.128842764_128842765del , CM000666.1:g.128842764_128842765del	GRCh37
NC_000004.10:g.129062214_129062215del	NCBI36
NG_008657.1:g.49375_49376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1264_1265del	ENSP00000296468.3:p.Ala423CysfsTer?
ENST00000509826.2:c.*585_*586del	ENSP00000421176.2:n.*585_*586del
ENST00000513559.6:c.982_983del	ENSP00000425000.2:p.Ala329CysfsTer?
ENST00000515130.6:c.*149_*150del	ENSP00000493056.1:n.*149_*150del
ENST00000641025.1:c.*149_*150del	ENSP00000493346.1:n.*149_*150del
ENST00000641092.1:c.*149_*150del	ENSP00000493392.1:n.*149_*150del
ENST00000641133.1:c.*578_*579del	ENSP00000493192.1:n.*578_*579del
ENST00000641146.1:n.1130_1131del
ENST00000641147.1:c.814_815del	ENSP00000493133.1:p.Ala273CysfsTer?
ENST00000641178.1:c.1129_1130del	ENSP00000492989.1:p.Ala378CysfsTer?
ENST00000641186.1:c.1150_1151del	ENSP00000493347.1:p.Ala385CysfsTer?
ENST00000641228.1:c.*149_*150del	ENSP00000493194.1:n.*149_*150del
ENST00000641332.1:c.*325_*326del	ENSP00000493397.1:n.*325_*326del
ENST00000641340.1:c.*393_*394del	ENSP00000493191.1:n.*393_*394del
ENST00000641388.1:n.511_512del
ENST00000641393.1:c.814_815del	ENSP00000493197.1:p.Ala273CysfsTer?
ENST00000641397.1:c.*149_*150del	ENSP00000493406.1:n.*149_*150del
ENST00000641413.1:c.189_190del
ENST00000641434.1:c.1264_1265del	ENSP00000493279.1:p.Ala423CysfsTer?
ENST00000641464.1:c.*497_*498del	ENSP00000493438.1:n.*497_*498del
ENST00000641482.1:c.*149_*150del	ENSP00000493277.1:n.*149_*150del
ENST00000641508.1:c.*497_*498del	ENSP00000493209.1:n.*497_*498del
ENST00000641509.1:c.949_950del	ENSP00000493459.1:p.Ala318CysfsTer?
ENST00000641590.1:c.*149_*150del	ENSP00000493132.1:n.*149_*150del
ENST00000641658.1:c.*429_*430del	ENSP00000492987.1:n.*429_*430del
ENST00000641686.2:c.1264_1265del MANE Select	ENSP00000493218.2:p.Ala423CysfsTer?
ENST00000641690.1:c.1063_1064del	ENSP00000492966.1:p.Ala356CysfsTer?
ENST00000641742.1:c.*429_*430del	ENSP00000493315.1:n.*429_*430del
ENST00000641748.1:c.1264_1265del	ENSP00000493330.1:p.Ala423CysfsTer?
ENST00000641753.1:c.1091_1092del
ENST00000641774.1:c.*516_*517del	ENSP00000492960.1:n.*516_*517del
ENST00000641830.1:c.496_497del
ENST00000641843.1:c.*325_*326del	ENSP00000493174.1:n.*325_*326del
ENST00000641869.1:c.465_466del
ENST00000641870.1:c.*325_*326del	ENSP00000493044.1:n.*325_*326del
ENST00000641882.1:c.*429_*430del	ENSP00000493301.1:n.*429_*430del
ENST00000641928.1:c.*393_*394del	ENSP00000493418.1:n.*393_*394del
ENST00000641949.1:c.554-774_554-773del	ENSP00000492891.1:n.554-774_554-773del
ENST00000642012.1:n.1128_1129del
ENST00000642034.1:c.*149_*150del	ENSP00000493285.1:n.*149_*150del
ENST00000642042.1:c.1264_1265del	ENSP00000493260.1:p.Ala423CysfsTer?
ENST00000642078.1:c.*325_*326del	ENSP00000492885.1:n.*325_*326del
ENST00000296468.7:c.1264_1265del	ENSP00000296468.3:p.Ala423CysfsTer?
ENST00000504126.1:n.292_293del
ENST00000513559.5:c.1129_1130del	ENSP00000425000.1:p.Ala378CysfsTer?
ENST00000515130.5:n.1606_1607del
NM_152778.2:c.1264_1265del	NP_689991.1:p.Ala423CysfsTer?
XM_005262893.1:c.1264_1265del	XP_005262950.1:p.Ala423CysfsTer?
XM_005262896.1:c.1117_1118del	XP_005262953.1:p.Ala374CysfsTer?
XM_005262897.1:c.1063_1064del	XP_005262954.1:p.Ala356CysfsTer?
XM_005262898.2:c.*149_*150del	XP_005262955.1:n.*149_*150del
XM_011531830.1:c.1150_1151del	XP_011530132.1:p.Ala385CysfsTer?
XM_011531831.1:c.949_950del	XP_011530133.1:p.Ala318CysfsTer?
XM_011531832.1:c.*149_*150del	XP_011530134.1:n.*149_*150del
XR_938717.1:n.1341_1342del
NM_001363520.1:c.1063_1064del	NP_001350449.1:p.Ala356CysfsTer?
NM_001363521.1:c.949_950del	NP_001350450.1:p.Ala318CysfsTer?
XM_005262898.3:c.*149_*150del	XP_005262955.1:n.*149_*150del
XM_017007989.1:c.*149_*150del	XP_016863478.1:n.*149_*150del
XM_024453981.1:c.1129_1130del	XP_024309749.1:p.Ala378CysfsTer?
XM_024453982.1:c.1015_1016del	XP_024309750.1:p.Ala340CysfsTer?
XM_024453983.1:c.814_815del	XP_024309751.1:p.Ala273CysfsTer?
XR_001741194.1:n.1237_1238del
XR_001741195.1:n.1123_1124del
XR_001741196.1:n.1036_1037del
XR_001741197.1:n.1196_1197del
XR_001741198.2:n.1092_1093del
XR_001741199.1:n.1092_1093del
XR_938717.2:n.1341_1342del
NM_001363520.2:c.1063_1064del	NP_001350449.1:p.Ala356CysfsTer?
NM_001363521.2:c.949_950del	NP_001350450.1:p.Ala318CysfsTer?
NM_001371590.1:c.1129_1130del	NP_001358519.1:p.Ala378CysfsTer?
NM_001371591.1:c.1264_1265del	NP_001358520.1:p.Ala423CysfsTer?
NM_001371592.1:c.1270_1271del	NP_001358521.1:p.Ala425CysfsTer?
NM_001371593.1:c.1150_1151del	NP_001358522.1:p.Ala385CysfsTer?
NM_001371594.1:c.1117_1118del	NP_001358523.1:p.Ala374CysfsTer?
NM_001371595.1:c.982_983del	NP_001358524.1:p.Ala329CysfsTer?
NM_001371596.2:c.1264_1265del MANE Select	NP_001358525.1:p.Ala423CysfsTer?
NM_152778.3:c.1264_1265del	NP_689991.1:p.Ala423CysfsTer?
NM_152778.4:c.1264_1265del	NP_689991.1:p.Ala423CysfsTer?