Canonical Allele Identifier: CA1492816506
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127920769_127920772delinsCTGA , CM000666.2:g.127920769_127920772delinsCTGA GRCh38
NC_000004.11:g.128841924_128841927delinsCTGA , CM000666.1:g.128841924_128841927delinsCTGA GRCh37
NC_000004.10:g.129061374_129061377delinsCTGA NCBI36
NG_008657.1:g.50213_50216delinsTCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1415_1418delinsTCAG ENSP00000296468.3:p.Ile472=
ENST00000509826.2:c.*736_*739delinsTCAG ENSP00000421176.2:n.*736_*739delinsTCAG
ENST00000513559.6:c.1133_1136delinsTCAG ENSP00000425000.2:p.Ile378=
ENST00000515130.6:c.*300_*303delinsTCAG ENSP00000493056.1:n.*300_*303delinsTCAG
ENST00000641025.1:c.*300_*303delinsTCAG ENSP00000493346.1:n.*300_*303delinsTCAG
ENST00000641092.1:c.*300_*303delinsTCAG ENSP00000493392.1:n.*300_*303delinsTCAG
ENST00000641133.1:c.*1416_*1419delinsTCAG ENSP00000493192.1:n.*1416_*1419delinsTCAG
ENST00000641146.1:n.1968_1971delinsTCAG
ENST00000641147.1:c.965_968delinsTCAG ENSP00000493133.1:p.Ile322=
ENST00000641178.1:c.1280_1283delinsTCAG ENSP00000492989.1:p.Ile427=
ENST00000641186.1:c.1301_1304delinsTCAG ENSP00000493347.1:p.Ile434=
ENST00000641228.1:c.*987_*990delinsTCAG ENSP00000493194.1:n.*987_*990delinsTCAG
ENST00000641332.1:c.*557_*560delinsTCAG ENSP00000493397.1:n.*557_*560delinsTCAG
ENST00000641340.1:c.*1231_*1234delinsTCAG ENSP00000493191.1:n.*1231_*1234delinsTCAG
ENST00000641388.1:n.662_665delinsTCAG
ENST00000641393.1:c.965_968delinsTCAG ENSP00000493197.1:p.Ile322=
ENST00000641397.1:c.*300_*303delinsTCAG ENSP00000493406.1:n.*300_*303delinsTCAG
ENST00000641413.1:c.340_343delinsTCAG
ENST00000641434.1:c.1415_1418delinsTCAG ENSP00000493279.1:p.Ile472=
ENST00000641464.1:c.*648_*651delinsTCAG ENSP00000493438.1:n.*648_*651delinsTCAG
ENST00000641482.1:c.*987_*990delinsTCAG ENSP00000493277.1:n.*987_*990delinsTCAG
ENST00000641508.1:c.*648_*651delinsTCAG ENSP00000493209.1:n.*648_*651delinsTCAG
ENST00000641509.1:c.1100_1103delinsTCAG ENSP00000493459.1:p.Ile367=
ENST00000641590.1:c.*987_*990delinsTCAG ENSP00000493132.1:n.*987_*990delinsTCAG
ENST00000641658.1:c.*580_*583delinsTCAG ENSP00000492987.1:n.*580_*583delinsTCAG
ENST00000641686.2:c.1415_1418delinsTCAG MANE Select ENSP00000493218.2:p.Ile472=
ENST00000641690.1:c.1214_1217delinsTCAG ENSP00000492966.1:p.Ile405=
ENST00000641742.1:c.*580_*583delinsTCAG ENSP00000493315.1:n.*580_*583delinsTCAG
ENST00000641748.1:c.1415_1418delinsTCAG ENSP00000493330.1:p.Ile472=
ENST00000641753.1:c.1242_1245delinsTCAG
ENST00000641774.1:c.*667_*670delinsTCAG ENSP00000492960.1:n.*667_*670delinsTCAG
ENST00000641843.1:c.*476_*479delinsTCAG ENSP00000493174.1:n.*476_*479delinsTCAG
ENST00000641869.1:c.616_619delinsTCAG
ENST00000641870.1:c.*1163_*1166delinsTCAG ENSP00000493044.1:n.*1163_*1166delinsTCAG
ENST00000641882.1:c.*580_*583delinsTCAG ENSP00000493301.1:n.*580_*583delinsTCAG
ENST00000641928.1:c.*544_*547delinsTCAG ENSP00000493418.1:n.*544_*547delinsTCAG
ENST00000641949.1:c.618_621delinsTCAG ENSP00000492891.1:p.His206=
ENST00000642012.1:n.1279_1282delinsTCAG
ENST00000642034.1:c.*300_*303delinsTCAG ENSP00000493285.1:n.*300_*303delinsTCAG
ENST00000642042.1:c.*734_*737delinsTCAG ENSP00000493260.1:n.*734_*737delinsTCAG
ENST00000642078.1:c.*476_*479delinsTCAG ENSP00000492885.1:n.*476_*479delinsTCAG
ENST00000296468.7:c.1415_1418delinsTCAG ENSP00000296468.3:p.Ile472=
ENST00000513559.5:c.1280_1283delinsTCAG ENSP00000425000.1:p.Ile427=
ENST00000515130.5:n.1757_1760delinsTCAG
NM_152778.2:c.1415_1418delinsTCAG NP_689991.1:p.Ile472=
XM_005262893.1:c.1415_1418delinsTCAG XP_005262950.1:p.Ile472=
XM_005262896.1:c.1268_1271delinsTCAG XP_005262953.1:p.Ile423=
XM_005262897.1:c.1214_1217delinsTCAG XP_005262954.1:p.Ile405=
XM_005262898.2:c.*987_*990delinsTCAG XP_005262955.1:n.*987_*990delinsTCAG
XM_011531830.1:c.1301_1304delinsTCAG XP_011530132.1:p.Ile434=
XM_011531831.1:c.1100_1103delinsTCAG XP_011530133.1:p.Ile367=
XM_011531832.1:c.*987_*990delinsTCAG XP_011530134.1:n.*987_*990delinsTCAG
XR_938717.1:n.1898_1901delinsTCAG
NM_001363520.1:c.1214_1217delinsTCAG NP_001350449.1:p.Ile405=
NM_001363521.1:c.1100_1103delinsTCAG NP_001350450.1:p.Ile367=
XM_005262898.3:c.*987_*990delinsTCAG XP_005262955.1:n.*987_*990delinsTCAG
XM_017007989.1:c.*987_*990delinsTCAG XP_016863478.1:n.*987_*990delinsTCAG
XM_024453981.1:c.1280_1283delinsTCAG XP_024309749.1:p.Ile427=
XM_024453982.1:c.1166_1169delinsTCAG XP_024309750.1:p.Ile389=
XM_024453983.1:c.965_968delinsTCAG XP_024309751.1:p.Ile322=
XR_001741194.1:n.1388_1391delinsTCAG
XR_001741195.1:n.1274_1277delinsTCAG
XR_001741196.1:n.1187_1190delinsTCAG
XR_001741197.1:n.2034_2037delinsTCAG
XR_001741198.2:n.1930_1933delinsTCAG
XR_001741199.1:n.1243_1246delinsTCAG
XR_938717.2:n.1898_1901delinsTCAG
NM_001363520.2:c.1214_1217delinsTCAG NP_001350449.1:p.Ile405=
NM_001363521.2:c.1100_1103delinsTCAG NP_001350450.1:p.Ile367=
NM_001371590.1:c.1280_1283delinsTCAG NP_001358519.1:p.Ile427=
NM_001371591.1:c.1424_1427delinsTCAG NP_001358520.1:p.Ile475=
NM_001371592.1:c.1421_1424delinsTCAG NP_001358521.1:p.Ile474=
NM_001371593.1:c.1301_1304delinsTCAG NP_001358522.1:p.Ile434=
NM_001371594.1:c.1268_1271delinsTCAG NP_001358523.1:p.Ile423=
NM_001371595.1:c.1133_1136delinsTCAG NP_001358524.1:p.Ile378=
NM_001371596.2:c.1415_1418delinsTCAG MANE Select NP_001358525.1:p.Ile472=
NM_152778.3:c.1415_1418delinsTCAG NP_689991.1:p.Ile472=
NM_152778.4:c.1415_1418delinsTCAG NP_689991.1:p.Ile472=