Canonical Allele Identifier: CA2763478587
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127922015_127922016insAGA , CM000666.2:g.127922015_127922016insAGA GRCh38
NC_000004.11:g.128843170_128843171insAGA , CM000666.1:g.128843170_128843171insAGA GRCh37
NC_000004.10:g.129062620_129062621insAGA NCBI36
NG_008657.1:g.48969_48970insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.999-53_999-52insTCT ENSP00000296468.3:n.999-53_999-52insTCT
ENST00000509826.2:c.*232-53_*232-52insTCT ENSP00000421176.2:n.*232-53_*232-52insTCT
ENST00000513559.6:c.717-53_717-52insTCT ENSP00000425000.2:n.717-53_717-52insTCT
ENST00000515130.6:c.864-245_864-244insTCT ENSP00000493056.1:n.864-245_864-244insTCT
ENST00000641025.1:c.999-245_999-244insTCT ENSP00000493346.1:n.999-245_999-244insTCT
ENST00000641092.1:c.798-245_798-244insTCT ENSP00000493392.1:n.798-245_798-244insTCT
ENST00000641133.1:c.*313-53_*313-52insTCT ENSP00000493192.1:n.*313-53_*313-52insTCT
ENST00000641146.1:n.865-53_865-52insTCT
ENST00000641147.1:c.549-53_549-52insTCT ENSP00000493133.1:n.549-53_549-52insTCT
ENST00000641178.1:c.864-53_864-52insTCT ENSP00000492989.1:n.864-53_864-52insTCT
ENST00000641186.1:c.885-53_885-52insTCT ENSP00000493347.1:n.885-53_885-52insTCT
ENST00000641228.1:c.798-245_798-244insTCT ENSP00000493194.1:n.798-245_798-244insTCT
ENST00000641332.1:c.*164-245_*164-244insTCT ENSP00000493397.1:n.*164-245_*164-244insTCT
ENST00000641340.1:c.*232-245_*232-244insTCT ENSP00000493191.1:n.*232-245_*232-244insTCT
ENST00000641388.1:n.350-245_350-244insTCT
ENST00000641393.1:c.549-53_549-52insTCT ENSP00000493197.1:n.549-53_549-52insTCT
ENST00000641397.1:c.684-245_684-244insTCT ENSP00000493406.1:n.684-245_684-244insTCT
ENST00000641413.1:c.28-245_28-244insTCT
ENST00000641434.1:c.999-53_999-52insTCT ENSP00000493279.1:n.999-53_999-52insTCT
ENST00000641464.1:c.*232-53_*232-52insTCT ENSP00000493438.1:n.*232-53_*232-52insTCT
ENST00000641482.1:c.999-245_999-244insTCT ENSP00000493277.1:n.999-245_999-244insTCT
ENST00000641508.1:c.*232-53_*232-52insTCT ENSP00000493209.1:n.*232-53_*232-52insTCT
ENST00000641509.1:c.684-53_684-52insTCT ENSP00000493459.1:n.684-53_684-52insTCT
ENST00000641538.1:c.710-53_710-52insTCT
ENST00000641590.1:c.885-245_885-244insTCT ENSP00000493132.1:n.885-245_885-244insTCT
ENST00000641658.1:c.*164-53_*164-52insTCT ENSP00000492987.1:n.*164-53_*164-52insTCT
ENST00000641686.2:c.999-53_999-52insTCT MANE Select ENSP00000493218.2:n.999-53_999-52insTCT
ENST00000641690.1:c.798-53_798-52insTCT ENSP00000492966.1:n.798-53_798-52insTCT
ENST00000641742.1:c.*164-53_*164-52insTCT ENSP00000493315.1:n.*164-53_*164-52insTCT
ENST00000641748.1:c.999-53_999-52insTCT ENSP00000493330.1:n.999-53_999-52insTCT
ENST00000641753.1:c.826-53_826-52insTCT
ENST00000641774.1:c.*232-34_*232-33insTCT ENSP00000492960.1:n.*232-34_*232-33insTCT
ENST00000641830.1:c.335-245_335-244insTCT
ENST00000641843.1:c.*164-245_*164-244insTCT ENSP00000493174.1:n.*164-245_*164-244insTCT
ENST00000641869.1:c.304-245_304-244insTCT
ENST00000641870.1:c.*164-245_*164-244insTCT ENSP00000493044.1:n.*164-245_*164-244insTCT
ENST00000641882.1:c.*164-53_*164-52insTCT ENSP00000493301.1:n.*164-53_*164-52insTCT
ENST00000641928.1:c.*232-245_*232-244insTCT ENSP00000493418.1:n.*232-245_*232-244insTCT
ENST00000641949.1:c.554-1180_554-1179insTCT ENSP00000492891.1:n.554-1180_554-1179insTCT
ENST00000642012.1:n.863-53_863-52insTCT
ENST00000642034.1:c.885-245_885-244insTCT ENSP00000493285.1:n.885-245_885-244insTCT
ENST00000642042.1:c.999-53_999-52insTCT ENSP00000493260.1:n.999-53_999-52insTCT
ENST00000642078.1:c.*164-245_*164-244insTCT ENSP00000492885.1:n.*164-245_*164-244insTCT
ENST00000296468.7:c.999-53_999-52insTCT ENSP00000296468.3:n.999-53_999-52insTCT
ENST00000505284.5:n.894-245_894-244insTCT
ENST00000509826.1:c.*232-53_*232-52insTCT ENSP00000421176.1:n.*232-53_*232-52insTCT
ENST00000513559.5:c.864-53_864-52insTCT ENSP00000425000.1:n.864-53_864-52insTCT
ENST00000515130.5:n.1445-245_1445-244insTCT
NM_152778.2:c.999-53_999-52insTCT NP_689991.1:n.999-53_999-52insTCT
XM_005262893.1:c.999-53_999-52insTCT XP_005262950.1:n.999-53_999-52insTCT
XM_005262896.1:c.852-53_852-52insTCT XP_005262953.1:n.852-53_852-52insTCT
XM_005262897.1:c.798-53_798-52insTCT XP_005262954.1:n.798-53_798-52insTCT
XM_005262898.2:c.999-245_999-244insTCT XP_005262955.1:n.999-245_999-244insTCT
XM_011531830.1:c.885-53_885-52insTCT XP_011530132.1:n.885-53_885-52insTCT
XM_011531831.1:c.684-53_684-52insTCT XP_011530133.1:n.684-53_684-52insTCT
XM_011531832.1:c.885-245_885-244insTCT XP_011530134.1:n.885-245_885-244insTCT
XR_938717.1:n.1076-53_1076-52insTCT
NM_001363520.1:c.798-53_798-52insTCT NP_001350449.1:n.798-53_798-52insTCT
NM_001363521.1:c.684-53_684-52insTCT NP_001350450.1:n.684-53_684-52insTCT
XM_005262898.3:c.999-245_999-244insTCT XP_005262955.1:n.999-245_999-244insTCT
XM_017007989.1:c.798-245_798-244insTCT XP_016863478.1:n.798-245_798-244insTCT
XM_024453981.1:c.864-53_864-52insTCT XP_024309749.1:n.864-53_864-52insTCT
XM_024453982.1:c.750-53_750-52insTCT XP_024309750.1:n.750-53_750-52insTCT
XM_024453983.1:c.549-53_549-52insTCT XP_024309751.1:n.549-53_549-52insTCT
XR_001741194.1:n.1076-245_1076-244insTCT
XR_001741195.1:n.962-245_962-244insTCT
XR_001741196.1:n.875-245_875-244insTCT
XR_001741197.1:n.931-53_931-52insTCT
XR_001741198.2:n.931-245_931-244insTCT
XR_001741199.1:n.931-245_931-244insTCT
XR_938717.2:n.1076-53_1076-52insTCT
NM_001363520.2:c.798-53_798-52insTCT NP_001350449.1:n.798-53_798-52insTCT
NM_001363521.2:c.684-53_684-52insTCT NP_001350450.1:n.684-53_684-52insTCT
NM_001371590.1:c.864-53_864-52insTCT NP_001358519.1:n.864-53_864-52insTCT
NM_001371591.1:c.999-53_999-52insTCT NP_001358520.1:n.999-53_999-52insTCT
NM_001371592.1:c.1005-53_1005-52insTCT NP_001358521.1:n.1005-53_1005-52insTCT
NM_001371593.1:c.885-53_885-52insTCT NP_001358522.1:n.885-53_885-52insTCT
NM_001371594.1:c.852-53_852-52insTCT NP_001358523.1:n.852-53_852-52insTCT
NM_001371595.1:c.717-53_717-52insTCT NP_001358524.1:n.717-53_717-52insTCT
NM_001371596.2:c.999-53_999-52insTCT MANE Select NP_001358525.1:n.999-53_999-52insTCT
NM_152778.3:c.999-53_999-52insTCT NP_689991.1:n.999-53_999-52insTCT
NM_152778.4:c.999-53_999-52insTCT NP_689991.1:n.999-53_999-52insTCT