Canonical Allele Identifier: CA2763478605
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127922032_127922033insAC , CM000666.2:g.127922032_127922033insAC GRCh38
NC_000004.11:g.128843187_128843188insAC , CM000666.1:g.128843187_128843188insAC GRCh37
NC_000004.10:g.129062637_129062638insAC NCBI36
NG_008657.1:g.48952_48953insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.999-70_999-69insGT ENSP00000296468.3:n.999-70_999-69insGT
ENST00000509826.2:c.*232-70_*232-69insGT ENSP00000421176.2:n.*232-70_*232-69insGT
ENST00000513559.6:c.717-70_717-69insGT ENSP00000425000.2:n.717-70_717-69insGT
ENST00000515130.6:c.864-262_864-261insGT ENSP00000493056.1:n.864-262_864-261insGT
ENST00000641025.1:c.999-262_999-261insGT ENSP00000493346.1:n.999-262_999-261insGT
ENST00000641092.1:c.798-262_798-261insGT ENSP00000493392.1:n.798-262_798-261insGT
ENST00000641133.1:c.*313-70_*313-69insGT ENSP00000493192.1:n.*313-70_*313-69insGT
ENST00000641146.1:n.865-70_865-69insGT
ENST00000641147.1:c.549-70_549-69insGT ENSP00000493133.1:n.549-70_549-69insGT
ENST00000641178.1:c.864-70_864-69insGT ENSP00000492989.1:n.864-70_864-69insGT
ENST00000641186.1:c.885-70_885-69insGT ENSP00000493347.1:n.885-70_885-69insGT
ENST00000641228.1:c.798-262_798-261insGT ENSP00000493194.1:n.798-262_798-261insGT
ENST00000641332.1:c.*164-262_*164-261insGT ENSP00000493397.1:n.*164-262_*164-261insGT
ENST00000641340.1:c.*232-262_*232-261insGT ENSP00000493191.1:n.*232-262_*232-261insGT
ENST00000641388.1:n.350-262_350-261insGT
ENST00000641393.1:c.549-70_549-69insGT ENSP00000493197.1:n.549-70_549-69insGT
ENST00000641397.1:c.684-262_684-261insGT ENSP00000493406.1:n.684-262_684-261insGT
ENST00000641413.1:c.28-262_28-261insGT
ENST00000641434.1:c.999-70_999-69insGT ENSP00000493279.1:n.999-70_999-69insGT
ENST00000641464.1:c.*232-70_*232-69insGT ENSP00000493438.1:n.*232-70_*232-69insGT
ENST00000641482.1:c.999-262_999-261insGT ENSP00000493277.1:n.999-262_999-261insGT
ENST00000641508.1:c.*232-70_*232-69insGT ENSP00000493209.1:n.*232-70_*232-69insGT
ENST00000641509.1:c.684-70_684-69insGT ENSP00000493459.1:n.684-70_684-69insGT
ENST00000641538.1:c.710-70_710-69insGT
ENST00000641590.1:c.885-262_885-261insGT ENSP00000493132.1:n.885-262_885-261insGT
ENST00000641658.1:c.*164-70_*164-69insGT ENSP00000492987.1:n.*164-70_*164-69insGT
ENST00000641686.2:c.999-70_999-69insGT MANE Select ENSP00000493218.2:n.999-70_999-69insGT
ENST00000641690.1:c.798-70_798-69insGT ENSP00000492966.1:n.798-70_798-69insGT
ENST00000641742.1:c.*164-70_*164-69insGT ENSP00000493315.1:n.*164-70_*164-69insGT
ENST00000641748.1:c.999-70_999-69insGT ENSP00000493330.1:n.999-70_999-69insGT
ENST00000641753.1:c.826-70_826-69insGT
ENST00000641774.1:c.*232-51_*232-50insGT ENSP00000492960.1:n.*232-51_*232-50insGT
ENST00000641830.1:c.335-262_335-261insGT
ENST00000641843.1:c.*164-262_*164-261insGT ENSP00000493174.1:n.*164-262_*164-261insGT
ENST00000641869.1:c.304-262_304-261insGT
ENST00000641870.1:c.*164-262_*164-261insGT ENSP00000493044.1:n.*164-262_*164-261insGT
ENST00000641882.1:c.*164-70_*164-69insGT ENSP00000493301.1:n.*164-70_*164-69insGT
ENST00000641928.1:c.*232-262_*232-261insGT ENSP00000493418.1:n.*232-262_*232-261insGT
ENST00000641949.1:c.554-1197_554-1196insGT ENSP00000492891.1:n.554-1197_554-1196insGT
ENST00000642012.1:n.863-70_863-69insGT
ENST00000642034.1:c.885-262_885-261insGT ENSP00000493285.1:n.885-262_885-261insGT
ENST00000642042.1:c.999-70_999-69insGT ENSP00000493260.1:n.999-70_999-69insGT
ENST00000642078.1:c.*164-262_*164-261insGT ENSP00000492885.1:n.*164-262_*164-261insGT
ENST00000296468.7:c.999-70_999-69insGT ENSP00000296468.3:n.999-70_999-69insGT
ENST00000505284.5:n.894-262_894-261insGT
ENST00000509826.1:c.*232-70_*232-69insGT ENSP00000421176.1:n.*232-70_*232-69insGT
ENST00000513559.5:c.864-70_864-69insGT ENSP00000425000.1:n.864-70_864-69insGT
ENST00000515130.5:n.1445-262_1445-261insGT
NM_152778.2:c.999-70_999-69insGT NP_689991.1:n.999-70_999-69insGT
XM_005262893.1:c.999-70_999-69insGT XP_005262950.1:n.999-70_999-69insGT
XM_005262896.1:c.852-70_852-69insGT XP_005262953.1:n.852-70_852-69insGT
XM_005262897.1:c.798-70_798-69insGT XP_005262954.1:n.798-70_798-69insGT
XM_005262898.2:c.999-262_999-261insGT XP_005262955.1:n.999-262_999-261insGT
XM_011531830.1:c.885-70_885-69insGT XP_011530132.1:n.885-70_885-69insGT
XM_011531831.1:c.684-70_684-69insGT XP_011530133.1:n.684-70_684-69insGT
XM_011531832.1:c.885-262_885-261insGT XP_011530134.1:n.885-262_885-261insGT
XR_938717.1:n.1076-70_1076-69insGT
NM_001363520.1:c.798-70_798-69insGT NP_001350449.1:n.798-70_798-69insGT
NM_001363521.1:c.684-70_684-69insGT NP_001350450.1:n.684-70_684-69insGT
XM_005262898.3:c.999-262_999-261insGT XP_005262955.1:n.999-262_999-261insGT
XM_017007989.1:c.798-262_798-261insGT XP_016863478.1:n.798-262_798-261insGT
XM_024453981.1:c.864-70_864-69insGT XP_024309749.1:n.864-70_864-69insGT
XM_024453982.1:c.750-70_750-69insGT XP_024309750.1:n.750-70_750-69insGT
XM_024453983.1:c.549-70_549-69insGT XP_024309751.1:n.549-70_549-69insGT
XR_001741194.1:n.1076-262_1076-261insGT
XR_001741195.1:n.962-262_962-261insGT
XR_001741196.1:n.875-262_875-261insGT
XR_001741197.1:n.931-70_931-69insGT
XR_001741198.2:n.931-262_931-261insGT
XR_001741199.1:n.931-262_931-261insGT
XR_938717.2:n.1076-70_1076-69insGT
NM_001363520.2:c.798-70_798-69insGT NP_001350449.1:n.798-70_798-69insGT
NM_001363521.2:c.684-70_684-69insGT NP_001350450.1:n.684-70_684-69insGT
NM_001371590.1:c.864-70_864-69insGT NP_001358519.1:n.864-70_864-69insGT
NM_001371591.1:c.999-70_999-69insGT NP_001358520.1:n.999-70_999-69insGT
NM_001371592.1:c.1005-70_1005-69insGT NP_001358521.1:n.1005-70_1005-69insGT
NM_001371593.1:c.885-70_885-69insGT NP_001358522.1:n.885-70_885-69insGT
NM_001371594.1:c.852-70_852-69insGT NP_001358523.1:n.852-70_852-69insGT
NM_001371595.1:c.717-70_717-69insGT NP_001358524.1:n.717-70_717-69insGT
NM_001371596.2:c.999-70_999-69insGT MANE Select NP_001358525.1:n.999-70_999-69insGT
NM_152778.3:c.999-70_999-69insGT NP_689991.1:n.999-70_999-69insGT
NM_152778.4:c.999-70_999-69insGT NP_689991.1:n.999-70_999-69insGT