Canonical Allele Identifier: CA2697546931

Gene: MFSD8

Linked Data

• ClinVar Variation Id: 2759488
• ClinVar RCV Id: RCV003495936

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127920847_127920848insAT , CM000666.2:g.127920847_127920848insAT	GRCh38
NC_000004.11:g.128842002_128842003insAT , CM000666.1:g.128842002_128842003insAT	GRCh37
NC_000004.10:g.129061452_129061453insAT	NCBI36
NG_008657.1:g.50138_50139insTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000296468.8:c.1351-11_1351-10insTA	ENSP00000296468.3:n.1351-11_1351-10insTA
ENST00000509826.2:c.*672-11_*672-10insTA	ENSP00000421176.2:n.*672-11_*672-10insTA
ENST00000513559.6:c.1069-11_1069-10insTA	ENSP00000425000.2:n.1069-11_1069-10insTA
ENST00000515130.6:c.*236-11_*236-10insTA	ENSP00000493056.1:n.*236-11_*236-10insTA
ENST00000641025.1:c.*236-11_*236-10insTA	ENSP00000493346.1:n.*236-11_*236-10insTA
ENST00000641092.1:c.*236-11_*236-10insTA	ENSP00000493392.1:n.*236-11_*236-10insTA
ENST00000641133.1:c.*1341_*1342insTA	ENSP00000493192.1:n.*1341_*1342insTA
ENST00000641146.1:n.1893_1894insTA
ENST00000641147.1:c.901-11_901-10insTA	ENSP00000493133.1:n.901-11_901-10insTA
ENST00000641178.1:c.1216-11_1216-10insTA	ENSP00000492989.1:n.1216-11_1216-10insTA
ENST00000641186.1:c.1237-11_1237-10insTA	ENSP00000493347.1:n.1237-11_1237-10insTA
ENST00000641228.1:c.*912_*913insTA	ENSP00000493194.1:n.*912_*913insTA
ENST00000641332.1:c.*493-11_*493-10insTA	ENSP00000493397.1:n.*493-11_*493-10insTA
ENST00000641340.1:c.*1156_*1157insTA	ENSP00000493191.1:n.*1156_*1157insTA
ENST00000641388.1:n.598-11_598-10insTA
ENST00000641393.1:c.901-11_901-10insTA	ENSP00000493197.1:n.901-11_901-10insTA
ENST00000641397.1:c.*236-11_*236-10insTA	ENSP00000493406.1:n.*236-11_*236-10insTA
ENST00000641413.1:c.276-11_276-10insTA
ENST00000641434.1:c.1351-11_1351-10insTA	ENSP00000493279.1:n.1351-11_1351-10insTA
ENST00000641464.1:c.*584-11_*584-10insTA	ENSP00000493438.1:n.*584-11_*584-10insTA
ENST00000641482.1:c.*912_*913insTA	ENSP00000493277.1:n.*912_*913insTA
ENST00000641508.1:c.*584-11_*584-10insTA	ENSP00000493209.1:n.*584-11_*584-10insTA
ENST00000641509.1:c.1036-11_1036-10insTA	ENSP00000493459.1:n.1036-11_1036-10insTA
ENST00000641590.1:c.*912_*913insTA	ENSP00000493132.1:n.*912_*913insTA
ENST00000641658.1:c.*516-11_*516-10insTA	ENSP00000492987.1:n.*516-11_*516-10insTA
ENST00000641686.2:c.1351-11_1351-10insTA MANE Select	ENSP00000493218.2:n.1351-11_1351-10insTA
ENST00000641690.1:c.1150-11_1150-10insTA	ENSP00000492966.1:n.1150-11_1150-10insTA
ENST00000641742.1:c.*516-11_*516-10insTA	ENSP00000493315.1:n.*516-11_*516-10insTA
ENST00000641748.1:c.1351-11_1351-10insTA	ENSP00000493330.1:n.1351-11_1351-10insTA
ENST00000641753.1:c.1178-11_1178-10insTA
ENST00000641774.1:c.*603-11_*603-10insTA	ENSP00000492960.1:n.*603-11_*603-10insTA
ENST00000641843.1:c.*412-11_*412-10insTA	ENSP00000493174.1:n.*412-11_*412-10insTA
ENST00000641869.1:c.552-11_552-10insTA
ENST00000641870.1:c.*1088_*1089insTA	ENSP00000493044.1:n.*1088_*1089insTA
ENST00000641882.1:c.*516-11_*516-10insTA	ENSP00000493301.1:n.*516-11_*516-10insTA
ENST00000641928.1:c.*480-11_*480-10insTA	ENSP00000493418.1:n.*480-11_*480-10insTA
ENST00000641949.1:c.554-11_554-10insTA	ENSP00000492891.1:n.554-11_554-10insTA
ENST00000642012.1:n.1215-11_1215-10insTA
ENST00000642034.1:c.*236-11_*236-10insTA	ENSP00000493285.1:n.*236-11_*236-10insTA
ENST00000642042.1:c.*659_*660insTA	ENSP00000493260.1:n.*659_*660insTA
ENST00000642078.1:c.*412-11_*412-10insTA	ENSP00000492885.1:n.*412-11_*412-10insTA
ENST00000296468.7:c.1351-11_1351-10insTA	ENSP00000296468.3:n.1351-11_1351-10insTA
ENST00000513559.5:c.1216-11_1216-10insTA	ENSP00000425000.1:n.1216-11_1216-10insTA
ENST00000515130.5:n.1693-11_1693-10insTA
NM_152778.2:c.1351-11_1351-10insTA	NP_689991.1:n.1351-11_1351-10insTA
XM_005262893.1:c.1351-11_1351-10insTA	XP_005262950.1:n.1351-11_1351-10insTA
XM_005262896.1:c.1204-11_1204-10insTA	XP_005262953.1:n.1204-11_1204-10insTA
XM_005262897.1:c.1150-11_1150-10insTA	XP_005262954.1:n.1150-11_1150-10insTA
XM_005262898.2:c.*912_*913insTA	XP_005262955.1:n.*912_*913insTA
XM_011531830.1:c.1237-11_1237-10insTA	XP_011530132.1:n.1237-11_1237-10insTA
XM_011531831.1:c.1036-11_1036-10insTA	XP_011530133.1:n.1036-11_1036-10insTA
XM_011531832.1:c.*912_*913insTA	XP_011530134.1:n.*912_*913insTA
XR_938717.1:n.1834-11_1834-10insTA
NM_001363520.1:c.1150-11_1150-10insTA	NP_001350449.1:n.1150-11_1150-10insTA
NM_001363521.1:c.1036-11_1036-10insTA	NP_001350450.1:n.1036-11_1036-10insTA
XM_005262898.3:c.*912_*913insTA	XP_005262955.1:n.*912_*913insTA
XM_017007989.1:c.*912_*913insTA	XP_016863478.1:n.*912_*913insTA
XM_024453981.1:c.1216-11_1216-10insTA	XP_024309749.1:n.1216-11_1216-10insTA
XM_024453982.1:c.1102-11_1102-10insTA	XP_024309750.1:n.1102-11_1102-10insTA
XM_024453983.1:c.901-11_901-10insTA	XP_024309751.1:n.901-11_901-10insTA
XR_001741194.1:n.1324-11_1324-10insTA
XR_001741195.1:n.1210-11_1210-10insTA
XR_001741196.1:n.1123-11_1123-10insTA
XR_001741197.1:n.1959_1960insTA
XR_001741198.2:n.1855_1856insTA
XR_001741199.1:n.1179-11_1179-10insTA
XR_938717.2:n.1834-11_1834-10insTA
NM_001363520.2:c.1150-11_1150-10insTA	NP_001350449.1:n.1150-11_1150-10insTA
NM_001363521.2:c.1036-11_1036-10insTA	NP_001350450.1:n.1036-11_1036-10insTA
NM_001371590.1:c.1216-11_1216-10insTA	NP_001358519.1:n.1216-11_1216-10insTA
NM_001371591.1:c.1360-11_1360-10insTA	NP_001358520.1:n.1360-11_1360-10insTA
NM_001371592.1:c.1357-11_1357-10insTA	NP_001358521.1:n.1357-11_1357-10insTA
NM_001371593.1:c.1237-11_1237-10insTA	NP_001358522.1:n.1237-11_1237-10insTA
NM_001371594.1:c.1204-11_1204-10insTA	NP_001358523.1:n.1204-11_1204-10insTA
NM_001371595.1:c.1069-11_1069-10insTA	NP_001358524.1:n.1069-11_1069-10insTA
NM_001371596.2:c.1351-11_1351-10insTA MANE Select	NP_001358525.1:n.1351-11_1351-10insTA
NM_152778.3:c.1351-11_1351-10insTA	NP_689991.1:n.1351-11_1351-10insTA
NM_152778.4:c.1351-11_1351-10insTA	NP_689991.1:n.1351-11_1351-10insTA