Canonical Allele Identifier: CA1139658218

Gene: MFSD8

Linked Data

• ClinVar Variation Id: 950479
• ClinVar RCV Id: RCV001222197

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921639_127921640delinsCC , CM000666.2:g.127921639_127921640delinsCC	GRCh38
NC_000004.11:g.128842794_128842795delinsCC , CM000666.1:g.128842794_128842795delinsCC	GRCh37
NC_000004.10:g.129062244_129062245delinsCC	NCBI36
NG_008657.1:g.49345_49346delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1234_1235delinsGG	ENSP00000296468.3:p.Pro412Gly
ENST00000509826.2:c.*555_*556delinsGG	ENSP00000421176.2:n.*555_*556delinsGG
ENST00000513559.6:c.952_953delinsGG	ENSP00000425000.2:p.Pro318Gly
ENST00000515130.6:c.*119_*120delinsGG	ENSP00000493056.1:n.*119_*120delinsGG
ENST00000641025.1:c.*119_*120delinsGG	ENSP00000493346.1:n.*119_*120delinsGG
ENST00000641092.1:c.*119_*120delinsGG	ENSP00000493392.1:n.*119_*120delinsGG
ENST00000641133.1:c.*548_*549delinsGG	ENSP00000493192.1:n.*548_*549delinsGG
ENST00000641146.1:n.1100_1101delinsGG
ENST00000641147.1:c.784_785delinsGG	ENSP00000493133.1:p.Pro262Gly
ENST00000641178.1:c.1099_1100delinsGG	ENSP00000492989.1:p.Pro367Gly
ENST00000641186.1:c.1120_1121delinsGG	ENSP00000493347.1:p.Pro374Gly
ENST00000641228.1:c.*119_*120delinsGG	ENSP00000493194.1:n.*119_*120delinsGG
ENST00000641332.1:c.*295_*296delinsGG	ENSP00000493397.1:n.*295_*296delinsGG
ENST00000641340.1:c.*363_*364delinsGG	ENSP00000493191.1:n.*363_*364delinsGG
ENST00000641388.1:n.481_482delinsGG
ENST00000641393.1:c.784_785delinsGG	ENSP00000493197.1:p.Pro262Gly
ENST00000641397.1:c.*119_*120delinsGG	ENSP00000493406.1:n.*119_*120delinsGG
ENST00000641413.1:c.159_160delinsGG
ENST00000641434.1:c.1234_1235delinsGG	ENSP00000493279.1:p.Pro412Gly
ENST00000641464.1:c.*467_*468delinsGG	ENSP00000493438.1:n.*467_*468delinsGG
ENST00000641482.1:c.*119_*120delinsGG	ENSP00000493277.1:n.*119_*120delinsGG
ENST00000641508.1:c.*467_*468delinsGG	ENSP00000493209.1:n.*467_*468delinsGG
ENST00000641509.1:c.919_920delinsGG	ENSP00000493459.1:p.Pro307Gly
ENST00000641590.1:c.*119_*120delinsGG	ENSP00000493132.1:n.*119_*120delinsGG
ENST00000641658.1:c.*399_*400delinsGG	ENSP00000492987.1:n.*399_*400delinsGG
ENST00000641686.2:c.1234_1235delinsGG MANE Select	ENSP00000493218.2:p.Pro412Gly
ENST00000641690.1:c.1033_1034delinsGG	ENSP00000492966.1:p.Pro345Gly
ENST00000641742.1:c.*399_*400delinsGG	ENSP00000493315.1:n.*399_*400delinsGG
ENST00000641748.1:c.1234_1235delinsGG	ENSP00000493330.1:p.Pro412Gly
ENST00000641753.1:c.1061_1062delinsGG
ENST00000641774.1:c.*486_*487delinsGG	ENSP00000492960.1:n.*486_*487delinsGG
ENST00000641830.1:c.466_467delinsGG
ENST00000641843.1:c.*295_*296delinsGG	ENSP00000493174.1:n.*295_*296delinsGG
ENST00000641869.1:c.435_436delinsGG
ENST00000641870.1:c.*295_*296delinsGG	ENSP00000493044.1:n.*295_*296delinsGG
ENST00000641882.1:c.*399_*400delinsGG	ENSP00000493301.1:n.*399_*400delinsGG
ENST00000641928.1:c.*363_*364delinsGG	ENSP00000493418.1:n.*363_*364delinsGG
ENST00000641949.1:c.554-804_554-803delinsGG	ENSP00000492891.1:n.554-804_554-803delinsGG
ENST00000642012.1:n.1098_1099delinsGG
ENST00000642034.1:c.*119_*120delinsGG	ENSP00000493285.1:n.*119_*120delinsGG
ENST00000642042.1:c.1234_1235delinsGG	ENSP00000493260.1:p.Pro412Gly
ENST00000642078.1:c.*295_*296delinsGG	ENSP00000492885.1:n.*295_*296delinsGG
ENST00000296468.7:c.1234_1235delinsGG	ENSP00000296468.3:p.Pro412Gly
ENST00000504126.1:n.262_263delinsGG
ENST00000513559.5:c.1099_1100delinsGG	ENSP00000425000.1:p.Pro367Gly
ENST00000515130.5:n.1576_1577delinsGG
NM_152778.2:c.1234_1235delinsGG	NP_689991.1:p.Pro412Gly
XM_005262893.1:c.1234_1235delinsGG	XP_005262950.1:p.Pro412Gly
XM_005262896.1:c.1087_1088delinsGG	XP_005262953.1:p.Pro363Gly
XM_005262897.1:c.1033_1034delinsGG	XP_005262954.1:p.Pro345Gly
XM_005262898.2:c.*119_*120delinsGG	XP_005262955.1:n.*119_*120delinsGG
XM_011531830.1:c.1120_1121delinsGG	XP_011530132.1:p.Pro374Gly
XM_011531831.1:c.919_920delinsGG	XP_011530133.1:p.Pro307Gly
XM_011531832.1:c.*119_*120delinsGG	XP_011530134.1:n.*119_*120delinsGG
XR_938717.1:n.1311_1312delinsGG
NM_001363520.1:c.1033_1034delinsGG	NP_001350449.1:p.Pro345Gly
NM_001363521.1:c.919_920delinsGG	NP_001350450.1:p.Pro307Gly
XM_005262898.3:c.*119_*120delinsGG	XP_005262955.1:n.*119_*120delinsGG
XM_017007989.1:c.*119_*120delinsGG	XP_016863478.1:n.*119_*120delinsGG
XM_024453981.1:c.1099_1100delinsGG	XP_024309749.1:p.Pro367Gly
XM_024453982.1:c.985_986delinsGG	XP_024309750.1:p.Pro329Gly
XM_024453983.1:c.784_785delinsGG	XP_024309751.1:p.Pro262Gly
XR_001741194.1:n.1207_1208delinsGG
XR_001741195.1:n.1093_1094delinsGG
XR_001741196.1:n.1006_1007delinsGG
XR_001741197.1:n.1166_1167delinsGG
XR_001741198.2:n.1062_1063delinsGG
XR_001741199.1:n.1062_1063delinsGG
XR_938717.2:n.1311_1312delinsGG
NM_001363520.2:c.1033_1034delinsGG	NP_001350449.1:p.Pro345Gly
NM_001363521.2:c.919_920delinsGG	NP_001350450.1:p.Pro307Gly
NM_001371590.1:c.1099_1100delinsGG	NP_001358519.1:p.Pro367Gly
NM_001371591.1:c.1234_1235delinsGG	NP_001358520.1:p.Pro412Gly
NM_001371592.1:c.1240_1241delinsGG	NP_001358521.1:p.Pro414Gly
NM_001371593.1:c.1120_1121delinsGG	NP_001358522.1:p.Pro374Gly
NM_001371594.1:c.1087_1088delinsGG	NP_001358523.1:p.Pro363Gly
NM_001371595.1:c.952_953delinsGG	NP_001358524.1:p.Pro318Gly
NM_001371596.2:c.1234_1235delinsGG MANE Select	NP_001358525.1:p.Pro412Gly
NM_152778.3:c.1234_1235delinsGG	NP_689991.1:p.Pro412Gly
NM_152778.4:c.1234_1235delinsGG	NP_689991.1:p.Pro412Gly