Canonical Allele Identifier: CA1492804461
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921875_127921876delinsTG , CM000666.2:g.127921875_127921876delinsTG GRCh38
NC_000004.11:g.128843030_128843031delinsTG , CM000666.1:g.128843030_128843031delinsTG GRCh37
NC_000004.10:g.129062480_129062481delinsTG NCBI36
NG_008657.1:g.49109_49110delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1086_1087delinsCA ENSP00000296468.3:p.Pro362=
ENST00000509826.2:c.*319_*320delinsCA ENSP00000421176.2:n.*319_*320delinsCA
ENST00000513559.6:c.804_805delinsCA ENSP00000425000.2:p.Pro268=
ENST00000515130.6:c.864-105_864-104delinsCA ENSP00000493056.1:n.864-105_864-104delinsCA
ENST00000641025.1:c.999-105_999-104delinsCA ENSP00000493346.1:n.999-105_999-104delinsCA
ENST00000641092.1:c.798-105_798-104delinsCA ENSP00000493392.1:n.798-105_798-104delinsCA
ENST00000641133.1:c.*400_*401delinsCA ENSP00000493192.1:n.*400_*401delinsCA
ENST00000641146.1:n.952_953delinsCA
ENST00000641147.1:c.636_637delinsCA ENSP00000493133.1:p.Pro212=
ENST00000641178.1:c.951_952delinsCA ENSP00000492989.1:p.Pro317=
ENST00000641186.1:c.972_973delinsCA ENSP00000493347.1:p.Pro324=
ENST00000641228.1:c.798-105_798-104delinsCA ENSP00000493194.1:n.798-105_798-104delinsCA
ENST00000641332.1:c.*164-105_*164-104delinsCA ENSP00000493397.1:n.*164-105_*164-104delinsCA
ENST00000641340.1:c.*232-105_*232-104delinsCA ENSP00000493191.1:n.*232-105_*232-104delinsCA
ENST00000641388.1:n.350-105_350-104delinsCA
ENST00000641393.1:c.636_637delinsCA ENSP00000493197.1:p.Pro212=
ENST00000641397.1:c.684-105_684-104delinsCA ENSP00000493406.1:n.684-105_684-104delinsCA
ENST00000641413.1:c.28-105_28-104delinsCA
ENST00000641434.1:c.1086_1087delinsCA ENSP00000493279.1:p.Pro362=
ENST00000641464.1:c.*319_*320delinsCA ENSP00000493438.1:n.*319_*320delinsCA
ENST00000641482.1:c.999-105_999-104delinsCA ENSP00000493277.1:n.999-105_999-104delinsCA
ENST00000641508.1:c.*319_*320delinsCA ENSP00000493209.1:n.*319_*320delinsCA
ENST00000641509.1:c.771_772delinsCA ENSP00000493459.1:p.Pro257=
ENST00000641590.1:c.885-105_885-104delinsCA ENSP00000493132.1:n.885-105_885-104delinsCA
ENST00000641658.1:c.*251_*252delinsCA ENSP00000492987.1:n.*251_*252delinsCA
ENST00000641686.2:c.1086_1087delinsCA MANE Select ENSP00000493218.2:p.Pro362=
ENST00000641690.1:c.885_886delinsCA ENSP00000492966.1:p.Pro295=
ENST00000641742.1:c.*251_*252delinsCA ENSP00000493315.1:n.*251_*252delinsCA
ENST00000641748.1:c.1086_1087delinsCA ENSP00000493330.1:p.Pro362=
ENST00000641753.1:c.913_914delinsCA
ENST00000641774.1:c.*338_*339delinsCA ENSP00000492960.1:n.*338_*339delinsCA
ENST00000641830.1:c.335-105_335-104delinsCA
ENST00000641843.1:c.*164-105_*164-104delinsCA ENSP00000493174.1:n.*164-105_*164-104delinsCA
ENST00000641869.1:c.304-105_304-104delinsCA
ENST00000641870.1:c.*164-105_*164-104delinsCA ENSP00000493044.1:n.*164-105_*164-104delinsCA
ENST00000641882.1:c.*251_*252delinsCA ENSP00000493301.1:n.*251_*252delinsCA
ENST00000641928.1:c.*232-105_*232-104delinsCA ENSP00000493418.1:n.*232-105_*232-104delinsCA
ENST00000641949.1:c.554-1040_554-1039delinsCA ENSP00000492891.1:n.554-1040_554-1039delinsCA
ENST00000642012.1:n.950_951delinsCA
ENST00000642034.1:c.885-105_885-104delinsCA ENSP00000493285.1:n.885-105_885-104delinsCA
ENST00000642042.1:c.1086_1087delinsCA ENSP00000493260.1:p.Pro362=
ENST00000642078.1:c.*164-105_*164-104delinsCA ENSP00000492885.1:n.*164-105_*164-104delinsCA
ENST00000296468.7:c.1086_1087delinsCA ENSP00000296468.3:p.Pro362=
ENST00000504126.1:n.114_115delinsCA
ENST00000505284.5:n.894-105_894-104delinsCA
ENST00000509826.1:c.*319_*320delinsCA ENSP00000421176.1:n.*319_*320delinsCA
ENST00000513559.5:c.951_952delinsCA ENSP00000425000.1:p.Pro317=
ENST00000515130.5:n.1445-105_1445-104delinsCA
NM_152778.2:c.1086_1087delinsCA NP_689991.1:p.Pro362=
XM_005262893.1:c.1086_1087delinsCA XP_005262950.1:p.Pro362=
XM_005262896.1:c.939_940delinsCA XP_005262953.1:p.Pro313=
XM_005262897.1:c.885_886delinsCA XP_005262954.1:p.Pro295=
XM_005262898.2:c.999-105_999-104delinsCA XP_005262955.1:n.999-105_999-104delinsCA
XM_011531830.1:c.972_973delinsCA XP_011530132.1:p.Pro324=
XM_011531831.1:c.771_772delinsCA XP_011530133.1:p.Pro257=
XM_011531832.1:c.885-105_885-104delinsCA XP_011530134.1:n.885-105_885-104delinsCA
XR_938717.1:n.1163_1164delinsCA
NM_001363520.1:c.885_886delinsCA NP_001350449.1:p.Pro295=
NM_001363521.1:c.771_772delinsCA NP_001350450.1:p.Pro257=
XM_005262898.3:c.999-105_999-104delinsCA XP_005262955.1:n.999-105_999-104delinsCA
XM_017007989.1:c.798-105_798-104delinsCA XP_016863478.1:n.798-105_798-104delinsCA
XM_024453981.1:c.951_952delinsCA XP_024309749.1:p.Pro317=
XM_024453982.1:c.837_838delinsCA XP_024309750.1:p.Pro279=
XM_024453983.1:c.636_637delinsCA XP_024309751.1:p.Pro212=
XR_001741194.1:n.1076-105_1076-104delinsCA
XR_001741195.1:n.962-105_962-104delinsCA
XR_001741196.1:n.875-105_875-104delinsCA
XR_001741197.1:n.1018_1019delinsCA
XR_001741198.2:n.931-105_931-104delinsCA
XR_001741199.1:n.931-105_931-104delinsCA
XR_938717.2:n.1163_1164delinsCA
NM_001363520.2:c.885_886delinsCA NP_001350449.1:p.Pro295=
NM_001363521.2:c.771_772delinsCA NP_001350450.1:p.Pro257=
NM_001371590.1:c.951_952delinsCA NP_001358519.1:p.Pro317=
NM_001371591.1:c.1086_1087delinsCA NP_001358520.1:p.Pro362=
NM_001371592.1:c.1092_1093delinsCA NP_001358521.1:p.Pro364=
NM_001371593.1:c.972_973delinsCA NP_001358522.1:p.Pro324=
NM_001371594.1:c.939_940delinsCA NP_001358523.1:p.Pro313=
NM_001371595.1:c.804_805delinsCA NP_001358524.1:p.Pro268=
NM_001371596.2:c.1086_1087delinsCA MANE Select NP_001358525.1:p.Pro362=
NM_152778.3:c.1086_1087delinsCA NP_689991.1:p.Pro362=
NM_152778.4:c.1086_1087delinsCA NP_689991.1:p.Pro362=