Canonical Allele Identifier: CA554738043

Gene: MFSD8

Linked Data

• dbSNP Id: rs1322599254
• gnomAD v2: 4-128851830-TAA-T
• gnomAD v4: 4-127930675-TAA-T
• MyVariant Identifiers: chr4:g.128851831_128851832del (hg19) ; chr4:g.127930676_127930677del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127930676_127930677del , CM000666.2:g.127930676_127930677del	GRCh38
NC_000004.11:g.128851831_128851832del , CM000666.1:g.128851831_128851832del	GRCh37
NC_000004.10:g.129071281_129071282del	NCBI36
NG_008657.1:g.40308_40309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.998+6_998+7del	ENSP00000296468.3:n.998+6_998+7del
ENST00000509826.2:c.*231+6_*231+7del	ENSP00000421176.2:n.*231+6_*231+7del
ENST00000513559.6:c.716+6_716+7del	ENSP00000425000.2:n.716+6_716+7del
ENST00000515130.6:c.863+6_863+7del	ENSP00000493056.1:n.863+6_863+7del
ENST00000641003.1:n.394_395del
ENST00000641025.1:c.998+6_998+7del	ENSP00000493346.1:n.998+6_998+7del
ENST00000641092.1:c.797+6_797+7del	ENSP00000493392.1:n.797+6_797+7del
ENST00000641133.1:c.*312+6_*312+7del	ENSP00000493192.1:n.*312+6_*312+7del
ENST00000641146.1:n.864+6_864+7del
ENST00000641147.1:c.548+6_548+7del	ENSP00000493133.1:n.548+6_548+7del
ENST00000641178.1:c.863+6_863+7del	ENSP00000492989.1:n.863+6_863+7del
ENST00000641186.1:c.884+6_884+7del	ENSP00000493347.1:n.884+6_884+7del
ENST00000641228.1:c.797+6_797+7del	ENSP00000493194.1:n.797+6_797+7del
ENST00000641332.1:c.*163+6_*163+7del	ENSP00000493397.1:n.*163+6_*163+7del
ENST00000641340.1:c.*231+6_*231+7del	ENSP00000493191.1:n.*231+6_*231+7del
ENST00000641388.1:n.349+6_349+7del
ENST00000641393.1:c.548+6_548+7del	ENSP00000493197.1:n.548+6_548+7del
ENST00000641397.1:c.683+6_683+7del	ENSP00000493406.1:n.683+6_683+7del
ENST00000641413.1:c.27+6_27+7del
ENST00000641434.1:c.998+6_998+7del	ENSP00000493279.1:n.998+6_998+7del
ENST00000641464.1:c.*231+6_*231+7del	ENSP00000493438.1:n.*231+6_*231+7del
ENST00000641482.1:c.998+6_998+7del	ENSP00000493277.1:n.998+6_998+7del
ENST00000641508.1:c.*231+6_*231+7del	ENSP00000493209.1:n.*231+6_*231+7del
ENST00000641509.1:c.683+6_683+7del	ENSP00000493459.1:n.683+6_683+7del
ENST00000641538.1:c.709+2308_709+2309del
ENST00000641590.1:c.884+6_884+7del	ENSP00000493132.1:n.884+6_884+7del
ENST00000641658.1:c.*163+6_*163+7del	ENSP00000492987.1:n.*163+6_*163+7del
ENST00000641686.2:c.998+6_998+7del MANE Select	ENSP00000493218.2:n.998+6_998+7del
ENST00000641690.1:c.797+6_797+7del	ENSP00000492966.1:n.797+6_797+7del
ENST00000641742.1:c.*163+6_*163+7del	ENSP00000493315.1:n.*163+6_*163+7del
ENST00000641748.1:c.998+6_998+7del	ENSP00000493330.1:n.998+6_998+7del
ENST00000641753.1:c.825+6_825+7del
ENST00000641774.1:c.*231+6_*231+7del	ENSP00000492960.1:n.*231+6_*231+7del
ENST00000641830.1:c.334+6_334+7del
ENST00000641843.1:c.*163+6_*163+7del	ENSP00000493174.1:n.*163+6_*163+7del
ENST00000641869.1:c.303+6_303+7del
ENST00000641870.1:c.*163+6_*163+7del	ENSP00000493044.1:n.*163+6_*163+7del
ENST00000641882.1:c.*163+6_*163+7del	ENSP00000493301.1:n.*163+6_*163+7del
ENST00000641928.1:c.*231+6_*231+7del	ENSP00000493418.1:n.*231+6_*231+7del
ENST00000641949.1:c.554-9841_554-9840del	ENSP00000492891.1:n.554-9841_554-9840del
ENST00000642012.1:n.862+6_862+7del
ENST00000642034.1:c.884+6_884+7del	ENSP00000493285.1:n.884+6_884+7del
ENST00000642042.1:c.998+6_998+7del	ENSP00000493260.1:n.998+6_998+7del
ENST00000642078.1:c.*163+6_*163+7del	ENSP00000492885.1:n.*163+6_*163+7del
ENST00000296468.7:c.998+6_998+7del	ENSP00000296468.3:n.998+6_998+7del
ENST00000505284.5:n.893+6_893+7del
ENST00000509826.1:c.*231+6_*231+7del	ENSP00000421176.1:n.*231+6_*231+7del
ENST00000513559.5:c.863+6_863+7del	ENSP00000425000.1:n.863+6_863+7del
ENST00000515130.5:n.1444+6_1444+7del
NM_152778.2:c.998+6_998+7del	NP_689991.1:n.998+6_998+7del
XM_005262893.1:c.998+6_998+7del	XP_005262950.1:n.998+6_998+7del
XM_005262896.1:c.851+6_851+7del	XP_005262953.1:n.851+6_851+7del
XM_005262897.1:c.797+6_797+7del	XP_005262954.1:n.797+6_797+7del
XM_005262898.2:c.998+6_998+7del	XP_005262955.1:n.998+6_998+7del
XM_011531830.1:c.884+6_884+7del	XP_011530132.1:n.884+6_884+7del
XM_011531831.1:c.683+6_683+7del	XP_011530133.1:n.683+6_683+7del
XM_011531832.1:c.884+6_884+7del	XP_011530134.1:n.884+6_884+7del
XR_938717.1:n.1075+6_1075+7del
NM_001363520.1:c.797+6_797+7del	NP_001350449.1:n.797+6_797+7del
NM_001363521.1:c.683+6_683+7del	NP_001350450.1:n.683+6_683+7del
XM_005262898.3:c.998+6_998+7del	XP_005262955.1:n.998+6_998+7del
XM_017007989.1:c.797+6_797+7del	XP_016863478.1:n.797+6_797+7del
XM_024453981.1:c.863+6_863+7del	XP_024309749.1:n.863+6_863+7del
XM_024453982.1:c.749+6_749+7del	XP_024309750.1:n.749+6_749+7del
XM_024453983.1:c.548+6_548+7del	XP_024309751.1:n.548+6_548+7del
XR_001741194.1:n.1075+6_1075+7del
XR_001741195.1:n.961+6_961+7del
XR_001741196.1:n.874+6_874+7del
XR_001741197.1:n.930+6_930+7del
XR_001741198.2:n.930+6_930+7del
XR_001741199.1:n.930+6_930+7del
XR_938717.2:n.1075+6_1075+7del
NM_001363520.2:c.797+6_797+7del	NP_001350449.1:n.797+6_797+7del
NM_001363521.2:c.683+6_683+7del	NP_001350450.1:n.683+6_683+7del
NM_001371590.1:c.863+6_863+7del	NP_001358519.1:n.863+6_863+7del
NM_001371591.1:c.998+6_998+7del	NP_001358520.1:n.998+6_998+7del
NM_001371592.1:c.1004+6_1004+7del	NP_001358521.1:n.1004+6_1004+7del
NM_001371593.1:c.884+6_884+7del	NP_001358522.1:n.884+6_884+7del
NM_001371594.1:c.851+6_851+7del	NP_001358523.1:n.851+6_851+7del
NM_001371595.1:c.716+6_716+7del	NP_001358524.1:n.716+6_716+7del
NM_001371596.2:c.998+6_998+7del MANE Select	NP_001358525.1:n.998+6_998+7del
NM_152778.3:c.998+6_998+7del	NP_689991.1:n.998+6_998+7del
NM_152778.4:c.998+6_998+7del	NP_689991.1:n.998+6_998+7del