Canonical Allele Identifier: CA105683112

Gene: MFSD8

Linked Data

• ClinVar Variation Id: 1212229
• ClinVar RCV Id: RCV001589467
• dbSNP Id: rs771374133
• gnomAD v2: 4-128859748-AAATAAAT-A
• gnomAD v3: 4-127938593-AAATAAAT-A
• gnomAD v4: 4-127938593-AAATAAAT-A
• MyVariant Identifiers: chr4:g.128859749_128859755del (hg19) ; chr4:g.128859751_128859763delinsATAAAT (hg19) ; chr4:g.127938594_127938600del (hg38) ; chr4:g.127938596_127938608delinsATAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938596_127938602del , CM000666.2:g.127938596_127938602del	GRCh38
NC_000004.11:g.128859751_128859757del , CM000666.1:g.128859751_128859757del	GRCh37
NC_000004.10:g.129079201_129079207del	NCBI36
NG_008657.1:g.32385_32391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.754+183_754+189del	ENSP00000296468.3:n.754+183_754+189del
ENST00000505284.6:n.970+183_970+189del
ENST00000509826.2:c.698+1253_698+1259del	ENSP00000421176.2:n.698+1253_698+1259del
ENST00000513559.6:c.472+183_472+189del	ENSP00000425000.2:n.472+183_472+189del
ENST00000515130.6:c.619+183_619+189del	ENSP00000493056.1:n.619+183_619+189del
ENST00000641025.1:c.754+183_754+189del	ENSP00000493346.1:n.754+183_754+189del
ENST00000641092.1:c.553+3445_553+3451del	ENSP00000493392.1:n.553+3445_553+3451del
ENST00000641133.1:c.*68+183_*68+189del	ENSP00000493192.1:n.*68+183_*68+189del
ENST00000641134.1:c.474+183_474+189del	ENSP00000492925.1:n.474+183_474+189del
ENST00000641147.1:c.304+5152_304+5158del	ENSP00000493133.1:n.304+5152_304+5158del
ENST00000641178.1:c.619+183_619+189del	ENSP00000492989.1:n.619+183_619+189del
ENST00000641186.1:c.640+183_640+189del	ENSP00000493347.1:n.640+183_640+189del
ENST00000641228.1:c.553+3445_553+3451del	ENSP00000493194.1:n.553+3445_553+3451del
ENST00000641243.1:c.609+183_609+189del	ENSP00000493083.1:n.609+183_609+189del
ENST00000641264.1:c.*551+183_*551+189del	ENSP00000492908.1:n.*551+183_*551+189del
ENST00000641332.1:c.609+183_609+189del	ENSP00000493397.1:n.609+183_609+189del
ENST00000641340.1:c.698+1253_698+1259del	ENSP00000493191.1:n.698+1253_698+1259del
ENST00000641369.1:c.250+183_250+189del	ENSP00000493037.1:n.250+183_250+189del
ENST00000641393.1:c.304+5152_304+5158del	ENSP00000493197.1:n.304+5152_304+5158del
ENST00000641397.1:c.439+5152_439+5158del	ENSP00000493406.1:n.439+5152_439+5158del
ENST00000641434.1:c.754+183_754+189del	ENSP00000493279.1:n.754+183_754+189del
ENST00000641464.1:c.449+1253_449+1259del	ENSP00000493438.1:n.449+1253_449+1259del
ENST00000641482.1:c.754+183_754+189del	ENSP00000493277.1:n.754+183_754+189del
ENST00000641503.1:c.640+183_640+189del	ENSP00000493304.1:n.640+183_640+189del
ENST00000641508.1:c.698+1253_698+1259del	ENSP00000493209.1:n.698+1253_698+1259del
ENST00000641509.1:c.439+5152_439+5158del	ENSP00000493459.1:n.439+5152_439+5158del
ENST00000641538.1:c.600+183_600+189del
ENST00000641590.1:c.640+183_640+189del	ENSP00000493132.1:n.640+183_640+189del
ENST00000641658.1:c.474+183_474+189del	ENSP00000492987.1:n.474+183_474+189del
ENST00000641686.2:c.754+183_754+189del MANE Select	ENSP00000493218.2:n.754+183_754+189del
ENST00000641690.1:c.553+3445_553+3451del	ENSP00000492966.1:n.553+3445_553+3451del
ENST00000641695.1:c.*38+183_*38+189del	ENSP00000493134.1:n.*38+183_*38+189del
ENST00000641742.1:c.609+183_609+189del	ENSP00000493315.1:n.609+183_609+189del
ENST00000641743.1:c.754+183_754+189del	ENSP00000493130.1:n.754+183_754+189del
ENST00000641748.1:c.754+183_754+189del	ENSP00000493330.1:n.754+183_754+189del
ENST00000641753.1:c.581+183_581+189del
ENST00000641774.1:c.584+1253_584+1259del	ENSP00000492960.1:n.584+1253_584+1259del
ENST00000641776.1:c.*306+183_*306+189del	ENSP00000493261.1:n.*306+183_*306+189del
ENST00000641830.1:c.90+183_90+189del
ENST00000641843.1:c.360+183_360+189del	ENSP00000493174.1:n.360+183_360+189del
ENST00000641869.1:c.59+183_59+189del
ENST00000641870.1:c.609+183_609+189del	ENSP00000493044.1:n.609+183_609+189del
ENST00000641882.1:c.495+183_495+189del	ENSP00000493301.1:n.495+183_495+189del
ENST00000641928.1:c.449+1253_449+1259del	ENSP00000493418.1:n.449+1253_449+1259del
ENST00000641949.1:c.553+3445_553+3451del	ENSP00000492891.1:n.553+3445_553+3451del
ENST00000642012.1:n.618+183_618+189del
ENST00000642034.1:c.640+183_640+189del	ENSP00000493285.1:n.640+183_640+189del
ENST00000642042.1:c.754+183_754+189del	ENSP00000493260.1:n.754+183_754+189del
ENST00000642078.1:c.474+183_474+189del	ENSP00000492885.1:n.474+183_474+189del
ENST00000642121.1:n.91-7783_91-7777del
ENST00000296468.7:c.754+183_754+189del	ENSP00000296468.3:n.754+183_754+189del
ENST00000505284.5:n.649+183_649+189del
ENST00000509826.1:c.449+1253_449+1259del	ENSP00000421176.1:n.449+1253_449+1259del
ENST00000513559.5:c.619+183_619+189del	ENSP00000425000.1:n.619+183_619+189del
ENST00000515130.5:n.1200+183_1200+189del
NM_152778.2:c.754+183_754+189del	NP_689991.1:n.754+183_754+189del
XM_005262893.1:c.754+183_754+189del	XP_005262950.1:n.754+183_754+189del
XM_005262896.1:c.607+183_607+189del	XP_005262953.1:n.607+183_607+189del
XM_005262897.1:c.553+3445_553+3451del	XP_005262954.1:n.553+3445_553+3451del
XM_005262898.2:c.754+183_754+189del	XP_005262955.1:n.754+183_754+189del
XM_005262900.2:c.609+183_609+189del	XP_005262957.1:n.609+183_609+189del
XM_011531830.1:c.640+183_640+189del	XP_011530132.1:n.640+183_640+189del
XM_011531831.1:c.439+5152_439+5158del	XP_011530133.1:n.439+5152_439+5158del
XM_011531832.1:c.640+183_640+189del	XP_011530134.1:n.640+183_640+189del
XR_938717.1:n.831+183_831+189del
NM_001363520.1:c.553+3445_553+3451del	NP_001350449.1:n.553+3445_553+3451del
NM_001363521.1:c.439+5152_439+5158del	NP_001350450.1:n.439+5152_439+5158del
XM_005262898.3:c.754+183_754+189del	XP_005262955.1:n.754+183_754+189del
XM_017007989.1:c.553+3445_553+3451del	XP_016863478.1:n.553+3445_553+3451del
XM_024453981.1:c.619+183_619+189del	XP_024309749.1:n.619+183_619+189del
XM_024453982.1:c.505+183_505+189del	XP_024309750.1:n.505+183_505+189del
XM_024453983.1:c.304+5152_304+5158del	XP_024309751.1:n.304+5152_304+5158del
XR_001741194.1:n.831+183_831+189del
XR_001741195.1:n.717+183_717+189del
XR_001741196.1:n.630+3445_630+3451del
XR_001741197.1:n.686+183_686+189del
XR_001741198.2:n.686+183_686+189del
XR_001741199.1:n.686+183_686+189del
XR_938717.2:n.831+183_831+189del
NM_001363520.2:c.553+3445_553+3451del	NP_001350449.1:n.553+3445_553+3451del
NM_001363521.2:c.439+5152_439+5158del	NP_001350450.1:n.439+5152_439+5158del
NM_001371590.1:c.619+183_619+189del	NP_001358519.1:n.619+183_619+189del
NM_001371591.1:c.754+183_754+189del	NP_001358520.1:n.754+183_754+189del
NM_001371592.1:c.760+183_760+189del	NP_001358521.1:n.760+183_760+189del
NM_001371593.1:c.640+183_640+189del	NP_001358522.1:n.640+183_640+189del
NM_001371594.1:c.607+183_607+189del	NP_001358523.1:n.607+183_607+189del
NM_001371595.1:c.472+183_472+189del	NP_001358524.1:n.472+183_472+189del
NM_001371596.2:c.754+183_754+189del MANE Select	NP_001358525.1:n.754+183_754+189del
NM_152778.3:c.754+183_754+189del	NP_689991.1:n.754+183_754+189del
NM_152778.4:c.754+183_754+189del	NP_689991.1:n.754+183_754+189del