Canonical Allele Identifier: CA2672042922

Gene: MFSD8

Linked Data

• gnomAD v4: 4-127938636-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938636_127938637insAAA , CM000666.2:g.127938636_127938637insAAA	GRCh38
NC_000004.11:g.128859791_128859792insAAA , CM000666.1:g.128859791_128859792insAAA	GRCh37
NC_000004.10:g.129079241_129079242insAAA	NCBI36
NG_008657.1:g.32348_32349insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.754+146_754+147insTTT	ENSP00000296468.3:n.754+146_754+147insTTT
ENST00000505284.6:n.970+146_970+147insTTT
ENST00000509826.2:c.698+1216_698+1217insTTT	ENSP00000421176.2:n.698+1216_698+1217insTTT
ENST00000513559.6:c.472+146_472+147insTTT	ENSP00000425000.2:n.472+146_472+147insTTT
ENST00000515130.6:c.619+146_619+147insTTT	ENSP00000493056.1:n.619+146_619+147insTTT
ENST00000641025.1:c.754+146_754+147insTTT	ENSP00000493346.1:n.754+146_754+147insTTT
ENST00000641092.1:c.553+3408_553+3409insTTT	ENSP00000493392.1:n.553+3408_553+3409insTTT
ENST00000641133.1:c.*68+146_*68+147insTTT	ENSP00000493192.1:n.*68+146_*68+147insTTT
ENST00000641134.1:c.474+146_474+147insTTT	ENSP00000492925.1:n.474+146_474+147insTTT
ENST00000641147.1:c.304+5115_304+5116insTTT	ENSP00000493133.1:n.304+5115_304+5116insTTT
ENST00000641178.1:c.619+146_619+147insTTT	ENSP00000492989.1:n.619+146_619+147insTTT
ENST00000641186.1:c.640+146_640+147insTTT	ENSP00000493347.1:n.640+146_640+147insTTT
ENST00000641228.1:c.553+3408_553+3409insTTT	ENSP00000493194.1:n.553+3408_553+3409insTTT
ENST00000641243.1:c.609+146_609+147insTTT	ENSP00000493083.1:n.609+146_609+147insTTT
ENST00000641264.1:c.*551+146_*551+147insTTT	ENSP00000492908.1:n.*551+146_*551+147insTTT
ENST00000641332.1:c.609+146_609+147insTTT	ENSP00000493397.1:n.609+146_609+147insTTT
ENST00000641340.1:c.698+1216_698+1217insTTT	ENSP00000493191.1:n.698+1216_698+1217insTTT
ENST00000641369.1:c.250+146_250+147insTTT	ENSP00000493037.1:n.250+146_250+147insTTT
ENST00000641393.1:c.304+5115_304+5116insTTT	ENSP00000493197.1:n.304+5115_304+5116insTTT
ENST00000641397.1:c.439+5115_439+5116insTTT	ENSP00000493406.1:n.439+5115_439+5116insTTT
ENST00000641434.1:c.754+146_754+147insTTT	ENSP00000493279.1:n.754+146_754+147insTTT
ENST00000641464.1:c.449+1216_449+1217insTTT	ENSP00000493438.1:n.449+1216_449+1217insTTT
ENST00000641482.1:c.754+146_754+147insTTT	ENSP00000493277.1:n.754+146_754+147insTTT
ENST00000641503.1:c.640+146_640+147insTTT	ENSP00000493304.1:n.640+146_640+147insTTT
ENST00000641508.1:c.698+1216_698+1217insTTT	ENSP00000493209.1:n.698+1216_698+1217insTTT
ENST00000641509.1:c.439+5115_439+5116insTTT	ENSP00000493459.1:n.439+5115_439+5116insTTT
ENST00000641538.1:c.600+146_600+147insTTT
ENST00000641590.1:c.640+146_640+147insTTT	ENSP00000493132.1:n.640+146_640+147insTTT
ENST00000641658.1:c.474+146_474+147insTTT	ENSP00000492987.1:n.474+146_474+147insTTT
ENST00000641686.2:c.754+146_754+147insTTT MANE Select	ENSP00000493218.2:n.754+146_754+147insTTT
ENST00000641690.1:c.553+3408_553+3409insTTT	ENSP00000492966.1:n.553+3408_553+3409insTTT
ENST00000641695.1:c.*38+146_*38+147insTTT	ENSP00000493134.1:n.*38+146_*38+147insTTT
ENST00000641742.1:c.609+146_609+147insTTT	ENSP00000493315.1:n.609+146_609+147insTTT
ENST00000641743.1:c.754+146_754+147insTTT	ENSP00000493130.1:n.754+146_754+147insTTT
ENST00000641748.1:c.754+146_754+147insTTT	ENSP00000493330.1:n.754+146_754+147insTTT
ENST00000641753.1:c.581+146_581+147insTTT
ENST00000641774.1:c.584+1216_584+1217insTTT	ENSP00000492960.1:n.584+1216_584+1217insTTT
ENST00000641776.1:c.*306+146_*306+147insTTT	ENSP00000493261.1:n.*306+146_*306+147insTTT
ENST00000641830.1:c.90+146_90+147insTTT
ENST00000641843.1:c.360+146_360+147insTTT	ENSP00000493174.1:n.360+146_360+147insTTT
ENST00000641869.1:c.59+146_59+147insTTT
ENST00000641870.1:c.609+146_609+147insTTT	ENSP00000493044.1:n.609+146_609+147insTTT
ENST00000641882.1:c.495+146_495+147insTTT	ENSP00000493301.1:n.495+146_495+147insTTT
ENST00000641928.1:c.449+1216_449+1217insTTT	ENSP00000493418.1:n.449+1216_449+1217insTTT
ENST00000641949.1:c.553+3408_553+3409insTTT	ENSP00000492891.1:n.553+3408_553+3409insTTT
ENST00000642012.1:n.618+146_618+147insTTT
ENST00000642034.1:c.640+146_640+147insTTT	ENSP00000493285.1:n.640+146_640+147insTTT
ENST00000642042.1:c.754+146_754+147insTTT	ENSP00000493260.1:n.754+146_754+147insTTT
ENST00000642078.1:c.474+146_474+147insTTT	ENSP00000492885.1:n.474+146_474+147insTTT
ENST00000642121.1:n.91-7820_91-7819insTTT
ENST00000296468.7:c.754+146_754+147insTTT	ENSP00000296468.3:n.754+146_754+147insTTT
ENST00000505284.5:n.649+146_649+147insTTT
ENST00000509826.1:c.449+1216_449+1217insTTT	ENSP00000421176.1:n.449+1216_449+1217insTTT
ENST00000513559.5:c.619+146_619+147insTTT	ENSP00000425000.1:n.619+146_619+147insTTT
ENST00000515130.5:n.1200+146_1200+147insTTT
NM_152778.2:c.754+146_754+147insTTT	NP_689991.1:n.754+146_754+147insTTT
XM_005262893.1:c.754+146_754+147insTTT	XP_005262950.1:n.754+146_754+147insTTT
XM_005262896.1:c.607+146_607+147insTTT	XP_005262953.1:n.607+146_607+147insTTT
XM_005262897.1:c.553+3408_553+3409insTTT	XP_005262954.1:n.553+3408_553+3409insTTT
XM_005262898.2:c.754+146_754+147insTTT	XP_005262955.1:n.754+146_754+147insTTT
XM_005262900.2:c.609+146_609+147insTTT	XP_005262957.1:n.609+146_609+147insTTT
XM_011531830.1:c.640+146_640+147insTTT	XP_011530132.1:n.640+146_640+147insTTT
XM_011531831.1:c.439+5115_439+5116insTTT	XP_011530133.1:n.439+5115_439+5116insTTT
XM_011531832.1:c.640+146_640+147insTTT	XP_011530134.1:n.640+146_640+147insTTT
XR_938717.1:n.831+146_831+147insTTT
NM_001363520.1:c.553+3408_553+3409insTTT	NP_001350449.1:n.553+3408_553+3409insTTT
NM_001363521.1:c.439+5115_439+5116insTTT	NP_001350450.1:n.439+5115_439+5116insTTT
XM_005262898.3:c.754+146_754+147insTTT	XP_005262955.1:n.754+146_754+147insTTT
XM_017007989.1:c.553+3408_553+3409insTTT	XP_016863478.1:n.553+3408_553+3409insTTT
XM_024453981.1:c.619+146_619+147insTTT	XP_024309749.1:n.619+146_619+147insTTT
XM_024453982.1:c.505+146_505+147insTTT	XP_024309750.1:n.505+146_505+147insTTT
XM_024453983.1:c.304+5115_304+5116insTTT	XP_024309751.1:n.304+5115_304+5116insTTT
XR_001741194.1:n.831+146_831+147insTTT
XR_001741195.1:n.717+146_717+147insTTT
XR_001741196.1:n.630+3408_630+3409insTTT
XR_001741197.1:n.686+146_686+147insTTT
XR_001741198.2:n.686+146_686+147insTTT
XR_001741199.1:n.686+146_686+147insTTT
XR_938717.2:n.831+146_831+147insTTT
NM_001363520.2:c.553+3408_553+3409insTTT	NP_001350449.1:n.553+3408_553+3409insTTT
NM_001363521.2:c.439+5115_439+5116insTTT	NP_001350450.1:n.439+5115_439+5116insTTT
NM_001371590.1:c.619+146_619+147insTTT	NP_001358519.1:n.619+146_619+147insTTT
NM_001371591.1:c.754+146_754+147insTTT	NP_001358520.1:n.754+146_754+147insTTT
NM_001371592.1:c.760+146_760+147insTTT	NP_001358521.1:n.760+146_760+147insTTT
NM_001371593.1:c.640+146_640+147insTTT	NP_001358522.1:n.640+146_640+147insTTT
NM_001371594.1:c.607+146_607+147insTTT	NP_001358523.1:n.607+146_607+147insTTT
NM_001371595.1:c.472+146_472+147insTTT	NP_001358524.1:n.472+146_472+147insTTT
NM_001371596.2:c.754+146_754+147insTTT MANE Select	NP_001358525.1:n.754+146_754+147insTTT
NM_152778.3:c.754+146_754+147insTTT	NP_689991.1:n.754+146_754+147insTTT
NM_152778.4:c.754+146_754+147insTTT	NP_689991.1:n.754+146_754+147insTTT