Canonical Allele Identifier: CA2578192934

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921870_127921884del , CM000666.2:g.127921870_127921884del	GRCh38
NC_000004.11:g.128843025_128843039del , CM000666.1:g.128843025_128843039del	GRCh37
NC_000004.10:g.129062475_129062489del	NCBI36
NG_008657.1:g.49103_49117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1080_1094del	ENSP00000296468.3:p.Phe361_Gln365del
ENST00000509826.2:c.*313_*327del	ENSP00000421176.2:n.*313_*327del
ENST00000513559.6:c.798_812del	ENSP00000425000.2:p.Phe267_Gln271del
ENST00000515130.6:c.864-111_864-97del	ENSP00000493056.1:n.864-111_864-97del
ENST00000641025.1:c.999-111_999-97del	ENSP00000493346.1:n.999-111_999-97del
ENST00000641092.1:c.798-111_798-97del	ENSP00000493392.1:n.798-111_798-97del
ENST00000641133.1:c.*394_*408del	ENSP00000493192.1:n.*394_*408del
ENST00000641146.1:n.946_960del
ENST00000641147.1:c.630_644del	ENSP00000493133.1:p.Phe211_Gln215del
ENST00000641178.1:c.945_959del	ENSP00000492989.1:p.Phe316_Gln320del
ENST00000641186.1:c.966_980del	ENSP00000493347.1:p.Phe323_Gln327del
ENST00000641228.1:c.798-111_798-97del	ENSP00000493194.1:n.798-111_798-97del
ENST00000641332.1:c.*164-111_*164-97del	ENSP00000493397.1:n.*164-111_*164-97del
ENST00000641340.1:c.*232-111_*232-97del	ENSP00000493191.1:n.*232-111_*232-97del
ENST00000641388.1:n.350-111_350-97del
ENST00000641393.1:c.630_644del	ENSP00000493197.1:p.Phe211_Gln215del
ENST00000641397.1:c.684-111_684-97del	ENSP00000493406.1:n.684-111_684-97del
ENST00000641413.1:c.28-111_28-97del
ENST00000641434.1:c.1080_1094del	ENSP00000493279.1:p.Phe361_Gln365del
ENST00000641464.1:c.*313_*327del	ENSP00000493438.1:n.*313_*327del
ENST00000641482.1:c.999-111_999-97del	ENSP00000493277.1:n.999-111_999-97del
ENST00000641508.1:c.*313_*327del	ENSP00000493209.1:n.*313_*327del
ENST00000641509.1:c.765_779del	ENSP00000493459.1:p.Phe256_Gln260del
ENST00000641590.1:c.885-111_885-97del	ENSP00000493132.1:n.885-111_885-97del
ENST00000641658.1:c.*245_*259del	ENSP00000492987.1:n.*245_*259del
ENST00000641686.2:c.1080_1094del MANE Select	ENSP00000493218.2:p.Phe361_Gln365del
ENST00000641690.1:c.879_893del	ENSP00000492966.1:p.Phe294_Gln298del
ENST00000641742.1:c.*245_*259del	ENSP00000493315.1:n.*245_*259del
ENST00000641748.1:c.1080_1094del	ENSP00000493330.1:p.Phe361_Gln365del
ENST00000641753.1:c.907_921del
ENST00000641774.1:c.*332_*346del	ENSP00000492960.1:n.*332_*346del
ENST00000641830.1:c.335-111_335-97del
ENST00000641843.1:c.*164-111_*164-97del	ENSP00000493174.1:n.*164-111_*164-97del
ENST00000641869.1:c.304-111_304-97del
ENST00000641870.1:c.*164-111_*164-97del	ENSP00000493044.1:n.*164-111_*164-97del
ENST00000641882.1:c.*245_*259del	ENSP00000493301.1:n.*245_*259del
ENST00000641928.1:c.*232-111_*232-97del	ENSP00000493418.1:n.*232-111_*232-97del
ENST00000641949.1:c.554-1046_554-1032del	ENSP00000492891.1:n.554-1046_554-1032del
ENST00000642012.1:n.944_958del
ENST00000642034.1:c.885-111_885-97del	ENSP00000493285.1:n.885-111_885-97del
ENST00000642042.1:c.1080_1094del	ENSP00000493260.1:p.Phe361_Gln365del
ENST00000642078.1:c.*164-111_*164-97del	ENSP00000492885.1:n.*164-111_*164-97del
ENST00000296468.7:c.1080_1094del	ENSP00000296468.3:p.Phe361_Gln365del
ENST00000504126.1:n.108_122del
ENST00000505284.5:n.894-111_894-97del
ENST00000509826.1:c.*313_*327del	ENSP00000421176.1:n.*313_*327del
ENST00000513559.5:c.945_959del	ENSP00000425000.1:p.Phe316_Gln320del
ENST00000515130.5:n.1445-111_1445-97del
NM_152778.2:c.1080_1094del	NP_689991.1:p.Phe361_Gln365del
XM_005262893.1:c.1080_1094del	XP_005262950.1:p.Phe361_Gln365del
XM_005262896.1:c.933_947del	XP_005262953.1:p.Phe312_Gln316del
XM_005262897.1:c.879_893del	XP_005262954.1:p.Phe294_Gln298del
XM_005262898.2:c.999-111_999-97del	XP_005262955.1:n.999-111_999-97del
XM_011531830.1:c.966_980del	XP_011530132.1:p.Phe323_Gln327del
XM_011531831.1:c.765_779del	XP_011530133.1:p.Phe256_Gln260del
XM_011531832.1:c.885-111_885-97del	XP_011530134.1:n.885-111_885-97del
XR_938717.1:n.1157_1171del
NM_001363520.1:c.879_893del	NP_001350449.1:p.Phe294_Gln298del
NM_001363521.1:c.765_779del	NP_001350450.1:p.Phe256_Gln260del
XM_005262898.3:c.999-111_999-97del	XP_005262955.1:n.999-111_999-97del
XM_017007989.1:c.798-111_798-97del	XP_016863478.1:n.798-111_798-97del
XM_024453981.1:c.945_959del	XP_024309749.1:p.Phe316_Gln320del
XM_024453982.1:c.831_845del	XP_024309750.1:p.Phe278_Gln282del
XM_024453983.1:c.630_644del	XP_024309751.1:p.Phe211_Gln215del
XR_001741194.1:n.1076-111_1076-97del
XR_001741195.1:n.962-111_962-97del
XR_001741196.1:n.875-111_875-97del
XR_001741197.1:n.1012_1026del
XR_001741198.2:n.931-111_931-97del
XR_001741199.1:n.931-111_931-97del
XR_938717.2:n.1157_1171del
NM_001363520.2:c.879_893del	NP_001350449.1:p.Phe294_Gln298del
NM_001363521.2:c.765_779del	NP_001350450.1:p.Phe256_Gln260del
NM_001371590.1:c.945_959del	NP_001358519.1:p.Phe316_Gln320del
NM_001371591.1:c.1080_1094del	NP_001358520.1:p.Phe361_Gln365del
NM_001371592.1:c.1086_1100del	NP_001358521.1:p.Phe363_Gln367del
NM_001371593.1:c.966_980del	NP_001358522.1:p.Phe323_Gln327del
NM_001371594.1:c.933_947del	NP_001358523.1:p.Phe312_Gln316del
NM_001371595.1:c.798_812del	NP_001358524.1:p.Phe267_Gln271del
NM_001371596.2:c.1080_1094del MANE Select	NP_001358525.1:p.Phe361_Gln365del
NM_152778.3:c.1080_1094del	NP_689991.1:p.Phe361_Gln365del
NM_152778.4:c.1080_1094del	NP_689991.1:p.Phe361_Gln365del