Canonical Allele Identifier: CA2763478596
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127922024_127922025insAG , CM000666.2:g.127922024_127922025insAG GRCh38
NC_000004.11:g.128843179_128843180insAG , CM000666.1:g.128843179_128843180insAG GRCh37
NC_000004.10:g.129062629_129062630insAG NCBI36
NG_008657.1:g.48960_48961insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.999-62_999-61insCT ENSP00000296468.3:n.999-62_999-61insCT
ENST00000509826.2:c.*232-62_*232-61insCT ENSP00000421176.2:n.*232-62_*232-61insCT
ENST00000513559.6:c.717-62_717-61insCT ENSP00000425000.2:n.717-62_717-61insCT
ENST00000515130.6:c.864-254_864-253insCT ENSP00000493056.1:n.864-254_864-253insCT
ENST00000641025.1:c.999-254_999-253insCT ENSP00000493346.1:n.999-254_999-253insCT
ENST00000641092.1:c.798-254_798-253insCT ENSP00000493392.1:n.798-254_798-253insCT
ENST00000641133.1:c.*313-62_*313-61insCT ENSP00000493192.1:n.*313-62_*313-61insCT
ENST00000641146.1:n.865-62_865-61insCT
ENST00000641147.1:c.549-62_549-61insCT ENSP00000493133.1:n.549-62_549-61insCT
ENST00000641178.1:c.864-62_864-61insCT ENSP00000492989.1:n.864-62_864-61insCT
ENST00000641186.1:c.885-62_885-61insCT ENSP00000493347.1:n.885-62_885-61insCT
ENST00000641228.1:c.798-254_798-253insCT ENSP00000493194.1:n.798-254_798-253insCT
ENST00000641332.1:c.*164-254_*164-253insCT ENSP00000493397.1:n.*164-254_*164-253insCT
ENST00000641340.1:c.*232-254_*232-253insCT ENSP00000493191.1:n.*232-254_*232-253insCT
ENST00000641388.1:n.350-254_350-253insCT
ENST00000641393.1:c.549-62_549-61insCT ENSP00000493197.1:n.549-62_549-61insCT
ENST00000641397.1:c.684-254_684-253insCT ENSP00000493406.1:n.684-254_684-253insCT
ENST00000641413.1:c.28-254_28-253insCT
ENST00000641434.1:c.999-62_999-61insCT ENSP00000493279.1:n.999-62_999-61insCT
ENST00000641464.1:c.*232-62_*232-61insCT ENSP00000493438.1:n.*232-62_*232-61insCT
ENST00000641482.1:c.999-254_999-253insCT ENSP00000493277.1:n.999-254_999-253insCT
ENST00000641508.1:c.*232-62_*232-61insCT ENSP00000493209.1:n.*232-62_*232-61insCT
ENST00000641509.1:c.684-62_684-61insCT ENSP00000493459.1:n.684-62_684-61insCT
ENST00000641538.1:c.710-62_710-61insCT
ENST00000641590.1:c.885-254_885-253insCT ENSP00000493132.1:n.885-254_885-253insCT
ENST00000641658.1:c.*164-62_*164-61insCT ENSP00000492987.1:n.*164-62_*164-61insCT
ENST00000641686.2:c.999-62_999-61insCT MANE Select ENSP00000493218.2:n.999-62_999-61insCT
ENST00000641690.1:c.798-62_798-61insCT ENSP00000492966.1:n.798-62_798-61insCT
ENST00000641742.1:c.*164-62_*164-61insCT ENSP00000493315.1:n.*164-62_*164-61insCT
ENST00000641748.1:c.999-62_999-61insCT ENSP00000493330.1:n.999-62_999-61insCT
ENST00000641753.1:c.826-62_826-61insCT
ENST00000641774.1:c.*232-43_*232-42insCT ENSP00000492960.1:n.*232-43_*232-42insCT
ENST00000641830.1:c.335-254_335-253insCT
ENST00000641843.1:c.*164-254_*164-253insCT ENSP00000493174.1:n.*164-254_*164-253insCT
ENST00000641869.1:c.304-254_304-253insCT
ENST00000641870.1:c.*164-254_*164-253insCT ENSP00000493044.1:n.*164-254_*164-253insCT
ENST00000641882.1:c.*164-62_*164-61insCT ENSP00000493301.1:n.*164-62_*164-61insCT
ENST00000641928.1:c.*232-254_*232-253insCT ENSP00000493418.1:n.*232-254_*232-253insCT
ENST00000641949.1:c.554-1189_554-1188insCT ENSP00000492891.1:n.554-1189_554-1188insCT
ENST00000642012.1:n.863-62_863-61insCT
ENST00000642034.1:c.885-254_885-253insCT ENSP00000493285.1:n.885-254_885-253insCT
ENST00000642042.1:c.999-62_999-61insCT ENSP00000493260.1:n.999-62_999-61insCT
ENST00000642078.1:c.*164-254_*164-253insCT ENSP00000492885.1:n.*164-254_*164-253insCT
ENST00000296468.7:c.999-62_999-61insCT ENSP00000296468.3:n.999-62_999-61insCT
ENST00000505284.5:n.894-254_894-253insCT
ENST00000509826.1:c.*232-62_*232-61insCT ENSP00000421176.1:n.*232-62_*232-61insCT
ENST00000513559.5:c.864-62_864-61insCT ENSP00000425000.1:n.864-62_864-61insCT
ENST00000515130.5:n.1445-254_1445-253insCT
NM_152778.2:c.999-62_999-61insCT NP_689991.1:n.999-62_999-61insCT
XM_005262893.1:c.999-62_999-61insCT XP_005262950.1:n.999-62_999-61insCT
XM_005262896.1:c.852-62_852-61insCT XP_005262953.1:n.852-62_852-61insCT
XM_005262897.1:c.798-62_798-61insCT XP_005262954.1:n.798-62_798-61insCT
XM_005262898.2:c.999-254_999-253insCT XP_005262955.1:n.999-254_999-253insCT
XM_011531830.1:c.885-62_885-61insCT XP_011530132.1:n.885-62_885-61insCT
XM_011531831.1:c.684-62_684-61insCT XP_011530133.1:n.684-62_684-61insCT
XM_011531832.1:c.885-254_885-253insCT XP_011530134.1:n.885-254_885-253insCT
XR_938717.1:n.1076-62_1076-61insCT
NM_001363520.1:c.798-62_798-61insCT NP_001350449.1:n.798-62_798-61insCT
NM_001363521.1:c.684-62_684-61insCT NP_001350450.1:n.684-62_684-61insCT
XM_005262898.3:c.999-254_999-253insCT XP_005262955.1:n.999-254_999-253insCT
XM_017007989.1:c.798-254_798-253insCT XP_016863478.1:n.798-254_798-253insCT
XM_024453981.1:c.864-62_864-61insCT XP_024309749.1:n.864-62_864-61insCT
XM_024453982.1:c.750-62_750-61insCT XP_024309750.1:n.750-62_750-61insCT
XM_024453983.1:c.549-62_549-61insCT XP_024309751.1:n.549-62_549-61insCT
XR_001741194.1:n.1076-254_1076-253insCT
XR_001741195.1:n.962-254_962-253insCT
XR_001741196.1:n.875-254_875-253insCT
XR_001741197.1:n.931-62_931-61insCT
XR_001741198.2:n.931-254_931-253insCT
XR_001741199.1:n.931-254_931-253insCT
XR_938717.2:n.1076-62_1076-61insCT
NM_001363520.2:c.798-62_798-61insCT NP_001350449.1:n.798-62_798-61insCT
NM_001363521.2:c.684-62_684-61insCT NP_001350450.1:n.684-62_684-61insCT
NM_001371590.1:c.864-62_864-61insCT NP_001358519.1:n.864-62_864-61insCT
NM_001371591.1:c.999-62_999-61insCT NP_001358520.1:n.999-62_999-61insCT
NM_001371592.1:c.1005-62_1005-61insCT NP_001358521.1:n.1005-62_1005-61insCT
NM_001371593.1:c.885-62_885-61insCT NP_001358522.1:n.885-62_885-61insCT
NM_001371594.1:c.852-62_852-61insCT NP_001358523.1:n.852-62_852-61insCT
NM_001371595.1:c.717-62_717-61insCT NP_001358524.1:n.717-62_717-61insCT
NM_001371596.2:c.999-62_999-61insCT MANE Select NP_001358525.1:n.999-62_999-61insCT
NM_152778.3:c.999-62_999-61insCT NP_689991.1:n.999-62_999-61insCT
NM_152778.4:c.999-62_999-61insCT NP_689991.1:n.999-62_999-61insCT