Canonical Allele Identifier: CA2763479487
Gene: MFSD8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127938985_127938986insACG , CM000666.2:g.127938985_127938986insACG GRCh38
NC_000004.11:g.128860140_128860141insACG , CM000666.1:g.128860140_128860141insACG GRCh37
NC_000004.10:g.129079590_129079591insACG NCBI36
NG_008657.1:g.31999_32000insCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.699-148_699-147insCGT ENSP00000296468.3:n.699-148_699-147insCGT
ENST00000505284.6:n.915-148_915-147insCGT
ENST00000509826.2:c.698+867_698+868insCGT ENSP00000421176.2:n.698+867_698+868insCGT
ENST00000513559.6:c.419-150_419-149insCGT ENSP00000425000.2:n.419-150_419-149insCGT
ENST00000515130.6:c.564-148_564-147insCGT ENSP00000493056.1:n.564-148_564-147insCGT
ENST00000641025.1:c.699-148_699-147insCGT ENSP00000493346.1:n.699-148_699-147insCGT
ENST00000641092.1:c.553+3059_553+3060insCGT ENSP00000493392.1:n.553+3059_553+3060insCGT
ENST00000641133.1:c.*13-148_*13-147insCGT ENSP00000493192.1:n.*13-148_*13-147insCGT
ENST00000641134.1:c.419-148_419-147insCGT ENSP00000492925.1:n.419-148_419-147insCGT
ENST00000641147.1:c.304+4766_304+4767insCGT ENSP00000493133.1:n.304+4766_304+4767insCGT
ENST00000641178.1:c.564-148_564-147insCGT ENSP00000492989.1:n.564-148_564-147insCGT
ENST00000641186.1:c.585-148_585-147insCGT ENSP00000493347.1:n.585-148_585-147insCGT
ENST00000641228.1:c.553+3059_553+3060insCGT ENSP00000493194.1:n.553+3059_553+3060insCGT
ENST00000641243.1:c.554-148_554-147insCGT ENSP00000493083.1:n.554-148_554-147insCGT
ENST00000641264.1:c.*496-148_*496-147insCGT ENSP00000492908.1:n.*496-148_*496-147insCGT
ENST00000641332.1:c.554-148_554-147insCGT ENSP00000493397.1:n.554-148_554-147insCGT
ENST00000641340.1:c.698+867_698+868insCGT ENSP00000493191.1:n.698+867_698+868insCGT
ENST00000641369.1:c.195-148_195-147insCGT ENSP00000493037.1:n.195-148_195-147insCGT
ENST00000641393.1:c.304+4766_304+4767insCGT ENSP00000493197.1:n.304+4766_304+4767insCGT
ENST00000641397.1:c.439+4766_439+4767insCGT ENSP00000493406.1:n.439+4766_439+4767insCGT
ENST00000641434.1:c.699-148_699-147insCGT ENSP00000493279.1:n.699-148_699-147insCGT
ENST00000641464.1:c.449+867_449+868insCGT ENSP00000493438.1:n.449+867_449+868insCGT
ENST00000641482.1:c.699-148_699-147insCGT ENSP00000493277.1:n.699-148_699-147insCGT
ENST00000641503.1:c.585-148_585-147insCGT ENSP00000493304.1:n.585-148_585-147insCGT
ENST00000641508.1:c.698+867_698+868insCGT ENSP00000493209.1:n.698+867_698+868insCGT
ENST00000641509.1:c.439+4766_439+4767insCGT ENSP00000493459.1:n.439+4766_439+4767insCGT
ENST00000641538.1:c.545-148_545-147insCGT
ENST00000641590.1:c.585-148_585-147insCGT ENSP00000493132.1:n.585-148_585-147insCGT
ENST00000641658.1:c.419-148_419-147insCGT ENSP00000492987.1:n.419-148_419-147insCGT
ENST00000641686.2:c.699-148_699-147insCGT MANE Select ENSP00000493218.2:n.699-148_699-147insCGT
ENST00000641690.1:c.553+3059_553+3060insCGT ENSP00000492966.1:n.553+3059_553+3060insCGT
ENST00000641695.1:c.699-150_699-149insCGT ENSP00000493134.1:n.699-150_699-149insCGT
ENST00000641742.1:c.554-148_554-147insCGT ENSP00000493315.1:n.554-148_554-147insCGT
ENST00000641743.1:c.699-148_699-147insCGT ENSP00000493130.1:n.699-148_699-147insCGT
ENST00000641748.1:c.699-148_699-147insCGT ENSP00000493330.1:n.699-148_699-147insCGT
ENST00000641753.1:c.526-148_526-147insCGT
ENST00000641774.1:c.584+867_584+868insCGT ENSP00000492960.1:n.584+867_584+868insCGT
ENST00000641776.1:c.*251-148_*251-147insCGT ENSP00000493261.1:n.*251-148_*251-147insCGT
ENST00000641830.1:c.35-148_35-147insCGT
ENST00000641843.1:c.305-148_305-147insCGT ENSP00000493174.1:n.305-148_305-147insCGT
ENST00000641869.1:c.4-148_4-147insCGT
ENST00000641870.1:c.554-148_554-147insCGT ENSP00000493044.1:n.554-148_554-147insCGT
ENST00000641882.1:c.440-148_440-147insCGT ENSP00000493301.1:n.440-148_440-147insCGT
ENST00000641928.1:c.449+867_449+868insCGT ENSP00000493418.1:n.449+867_449+868insCGT
ENST00000641949.1:c.553+3059_553+3060insCGT ENSP00000492891.1:n.553+3059_553+3060insCGT
ENST00000642012.1:n.415_416insCGT
ENST00000642034.1:c.585-148_585-147insCGT ENSP00000493285.1:n.585-148_585-147insCGT
ENST00000642042.1:c.699-148_699-147insCGT ENSP00000493260.1:n.699-148_699-147insCGT
ENST00000642078.1:c.419-148_419-147insCGT ENSP00000492885.1:n.419-148_419-147insCGT
ENST00000642121.1:n.91-8169_91-8168insCGT
ENST00000296468.7:c.699-148_699-147insCGT ENSP00000296468.3:n.699-148_699-147insCGT
ENST00000505284.5:n.594-148_594-147insCGT
ENST00000508441.1:n.566-148_566-147insCGT
ENST00000509826.1:c.449+867_449+868insCGT ENSP00000421176.1:n.449+867_449+868insCGT
ENST00000513559.5:c.564-148_564-147insCGT ENSP00000425000.1:n.564-148_564-147insCGT
ENST00000515130.5:n.1145-148_1145-147insCGT
NM_152778.2:c.699-148_699-147insCGT NP_689991.1:n.699-148_699-147insCGT
XM_005262893.1:c.699-148_699-147insCGT XP_005262950.1:n.699-148_699-147insCGT
XM_005262896.1:c.554-150_554-149insCGT XP_005262953.1:n.554-150_554-149insCGT
XM_005262897.1:c.553+3059_553+3060insCGT XP_005262954.1:n.553+3059_553+3060insCGT
XM_005262898.2:c.699-148_699-147insCGT XP_005262955.1:n.699-148_699-147insCGT
XM_005262900.2:c.554-148_554-147insCGT XP_005262957.1:n.554-148_554-147insCGT
XM_011531830.1:c.585-148_585-147insCGT XP_011530132.1:n.585-148_585-147insCGT
XM_011531831.1:c.439+4766_439+4767insCGT XP_011530133.1:n.439+4766_439+4767insCGT
XM_011531832.1:c.585-148_585-147insCGT XP_011530134.1:n.585-148_585-147insCGT
XR_938717.1:n.776-148_776-147insCGT
NM_001363520.1:c.553+3059_553+3060insCGT NP_001350449.1:n.553+3059_553+3060insCGT
NM_001363521.1:c.439+4766_439+4767insCGT NP_001350450.1:n.439+4766_439+4767insCGT
XM_005262898.3:c.699-148_699-147insCGT XP_005262955.1:n.699-148_699-147insCGT
XM_017007989.1:c.553+3059_553+3060insCGT XP_016863478.1:n.553+3059_553+3060insCGT
XM_024453981.1:c.564-148_564-147insCGT XP_024309749.1:n.564-148_564-147insCGT
XM_024453982.1:c.450-148_450-147insCGT XP_024309750.1:n.450-148_450-147insCGT
XM_024453983.1:c.304+4766_304+4767insCGT XP_024309751.1:n.304+4766_304+4767insCGT
XR_001741194.1:n.776-148_776-147insCGT
XR_001741195.1:n.662-148_662-147insCGT
XR_001741196.1:n.630+3059_630+3060insCGT
XR_001741197.1:n.631-148_631-147insCGT
XR_001741198.2:n.631-148_631-147insCGT
XR_001741199.1:n.631-148_631-147insCGT
XR_938717.2:n.776-148_776-147insCGT
NM_001363520.2:c.553+3059_553+3060insCGT NP_001350449.1:n.553+3059_553+3060insCGT
NM_001363521.2:c.439+4766_439+4767insCGT NP_001350450.1:n.439+4766_439+4767insCGT
NM_001371590.1:c.564-148_564-147insCGT NP_001358519.1:n.564-148_564-147insCGT
NM_001371591.1:c.699-148_699-147insCGT NP_001358520.1:n.699-148_699-147insCGT
NM_001371592.1:c.705-148_705-147insCGT NP_001358521.1:n.705-148_705-147insCGT
NM_001371593.1:c.585-148_585-147insCGT NP_001358522.1:n.585-148_585-147insCGT
NM_001371594.1:c.554-150_554-149insCGT NP_001358523.1:n.554-150_554-149insCGT
NM_001371595.1:c.419-150_419-149insCGT NP_001358524.1:n.419-150_419-149insCGT
NM_001371596.2:c.699-148_699-147insCGT MANE Select NP_001358525.1:n.699-148_699-147insCGT
NM_152778.3:c.699-148_699-147insCGT NP_689991.1:n.699-148_699-147insCGT
NM_152778.4:c.699-148_699-147insCGT NP_689991.1:n.699-148_699-147insCGT
Search 100 bp 5'
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