Canonical Allele Identifier: CA10602922
Gene: MFSD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 280638
ClinVar RCV Id: RCV000371753
dbSNP Id: rs886041806

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921902dup , CM000666.2:g.127921902dup GRCh38
NC_000004.11:g.128843057dup , CM000666.1:g.128843057dup GRCh37
NC_000004.10:g.129062507dup NCBI36
NG_008657.1:g.49084dup

Transcript Alleles

HGVS Amino-acid change
ENST00000296468.8:c.1061dup ENSP00000296468.3:p.Leu354PhefsTer19
ENST00000509826.2:c.*294dup ENSP00000421176.2:n.*294dup
ENST00000513559.6:c.779dup ENSP00000425000.2:p.Leu260PhefsTer19
ENST00000515130.6:c.864-130dup ENSP00000493056.1:n.864-130dup
ENST00000641025.1:c.999-130dup ENSP00000493346.1:n.999-130dup
ENST00000641092.1:c.798-130dup ENSP00000493392.1:n.798-130dup
ENST00000641133.1:c.*375dup ENSP00000493192.1:n.*375dup
ENST00000641146.1:n.927dup
ENST00000641147.1:c.611dup ENSP00000493133.1:p.Leu204PhefsTer19
ENST00000641178.1:c.926dup ENSP00000492989.1:p.Leu309PhefsTer19
ENST00000641186.1:c.947dup ENSP00000493347.1:p.Leu316PhefsTer19
ENST00000641228.1:c.798-130dup ENSP00000493194.1:n.798-130dup
ENST00000641332.1:c.*164-130dup ENSP00000493397.1:n.*164-130dup
ENST00000641340.1:c.*232-130dup ENSP00000493191.1:n.*232-130dup
ENST00000641388.1:n.350-130dup
ENST00000641393.1:c.611dup ENSP00000493197.1:p.Leu204PhefsTer19
ENST00000641397.1:c.684-130dup ENSP00000493406.1:n.684-130dup
ENST00000641413.1:c.28-130dup
ENST00000641434.1:c.1061dup ENSP00000493279.1:p.Leu354PhefsTer19
ENST00000641464.1:c.*294dup ENSP00000493438.1:n.*294dup
ENST00000641482.1:c.999-130dup ENSP00000493277.1:n.999-130dup
ENST00000641508.1:c.*294dup ENSP00000493209.1:n.*294dup
ENST00000641509.1:c.746dup ENSP00000493459.1:p.Leu249PhefsTer19
ENST00000641590.1:c.885-130dup ENSP00000493132.1:n.885-130dup
ENST00000641658.1:c.*226dup ENSP00000492987.1:n.*226dup
ENST00000641686.2:c.1061dup MANE Select ENSP00000493218.2:p.Leu354PhefsTer19
ENST00000641690.1:c.860dup ENSP00000492966.1:p.Leu287PhefsTer19
ENST00000641742.1:c.*226dup ENSP00000493315.1:n.*226dup
ENST00000641748.1:c.1061dup ENSP00000493330.1:p.Leu354PhefsTer19
ENST00000641753.1:c.888dup
ENST00000641774.1:c.*313dup ENSP00000492960.1:n.*313dup
ENST00000641830.1:c.335-130dup
ENST00000641843.1:c.*164-130dup ENSP00000493174.1:n.*164-130dup
ENST00000641869.1:c.304-130dup
ENST00000641870.1:c.*164-130dup ENSP00000493044.1:n.*164-130dup
ENST00000641882.1:c.*226dup ENSP00000493301.1:n.*226dup
ENST00000641928.1:c.*232-130dup ENSP00000493418.1:n.*232-130dup
ENST00000641949.1:c.554-1065dup ENSP00000492891.1:n.554-1065dup
ENST00000642012.1:n.925dup
ENST00000642034.1:c.885-130dup ENSP00000493285.1:n.885-130dup
ENST00000642042.1:c.1061dup ENSP00000493260.1:p.Leu354PhefsTer19
ENST00000642078.1:c.*164-130dup ENSP00000492885.1:n.*164-130dup
ENST00000296468.7:c.1061dup ENSP00000296468.3:p.Leu354PhefsTer19
ENST00000504126.1:n.89dup
ENST00000505284.5:n.894-130dup
ENST00000509826.1:c.*294dup ENSP00000421176.1:n.*294dup
ENST00000513559.5:c.926dup ENSP00000425000.1:p.Leu309PhefsTer19
ENST00000515130.5:n.1445-130dup
NM_152778.2:c.1061dup NP_689991.1:p.Leu354PhefsTer19
XM_005262893.1:c.1061dup XP_005262950.1:p.Leu354PhefsTer19
XM_005262896.1:c.914dup XP_005262953.1:p.Leu305PhefsTer19
XM_005262897.1:c.860dup XP_005262954.1:p.Leu287PhefsTer19
XM_005262898.2:c.999-130dup XP_005262955.1:n.999-130dup
XM_011531830.1:c.947dup XP_011530132.1:p.Leu316PhefsTer19
XM_011531831.1:c.746dup XP_011530133.1:p.Leu249PhefsTer19
XM_011531832.1:c.885-130dup XP_011530134.1:n.885-130dup
XR_938717.1:n.1138dup
NM_001363520.1:c.860dup NP_001350449.1:p.Leu287PhefsTer19
NM_001363521.1:c.746dup NP_001350450.1:p.Leu249PhefsTer19
XM_005262898.3:c.999-130dup XP_005262955.1:n.999-130dup
XM_017007989.1:c.798-130dup XP_016863478.1:n.798-130dup
XM_024453981.1:c.926dup XP_024309749.1:p.Leu309PhefsTer19
XM_024453982.1:c.812dup XP_024309750.1:p.Leu271PhefsTer19
XM_024453983.1:c.611dup XP_024309751.1:p.Leu204PhefsTer19
XR_001741194.1:n.1076-130dup
XR_001741195.1:n.962-130dup
XR_001741196.1:n.875-130dup
XR_001741197.1:n.993dup
XR_001741198.2:n.931-130dup
XR_001741199.1:n.931-130dup
XR_938717.2:n.1138dup
NM_001363520.2:c.860dup NP_001350449.1:p.Leu287PhefsTer19
NM_001363521.2:c.746dup NP_001350450.1:p.Leu249PhefsTer19
NM_001371590.1:c.926dup NP_001358519.1:p.Leu309PhefsTer19
NM_001371591.1:c.1061dup NP_001358520.1:p.Leu354PhefsTer19
NM_001371592.1:c.1067dup NP_001358521.1:p.Leu356PhefsTer19
NM_001371593.1:c.947dup NP_001358522.1:p.Leu316PhefsTer19
NM_001371594.1:c.914dup NP_001358523.1:p.Leu305PhefsTer19
NM_001371595.1:c.779dup NP_001358524.1:p.Leu260PhefsTer19
NM_001371596.2:c.1061dup MANE Select NP_001358525.1:p.Leu354PhefsTer19
NM_152778.3:c.1061dup NP_689991.1:p.Leu354PhefsTer19
NM_152778.4:c.1061dup NP_689991.1:p.Leu354PhefsTer19