Canonical Allele Identifier: CA1492804582

Gene: MFSD8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921940_127921941delinsAG , CM000666.2:g.127921940_127921941delinsAG	GRCh38
NC_000004.11:g.128843095_128843096delinsAG , CM000666.1:g.128843095_128843096delinsAG	GRCh37
NC_000004.10:g.129062545_129062546delinsAG	NCBI36
NG_008657.1:g.49044_49045delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1021_1022delinsCT	ENSP00000296468.3:p.Leu341=
ENST00000509826.2:c.*254_*255delinsCT	ENSP00000421176.2:n.*254_*255delinsCT
ENST00000513559.6:c.739_740delinsCT	ENSP00000425000.2:p.Leu247=
ENST00000515130.6:c.864-170_864-169delinsCT	ENSP00000493056.1:n.864-170_864-169delinsCT
ENST00000641025.1:c.999-170_999-169delinsCT	ENSP00000493346.1:n.999-170_999-169delinsCT
ENST00000641092.1:c.798-170_798-169delinsCT	ENSP00000493392.1:n.798-170_798-169delinsCT
ENST00000641133.1:c.*335_*336delinsCT	ENSP00000493192.1:n.*335_*336delinsCT
ENST00000641146.1:n.887_888delinsCT
ENST00000641147.1:c.571_572delinsCT	ENSP00000493133.1:p.Leu191=
ENST00000641178.1:c.886_887delinsCT	ENSP00000492989.1:p.Leu296=
ENST00000641186.1:c.907_908delinsCT	ENSP00000493347.1:p.Leu303=
ENST00000641228.1:c.798-170_798-169delinsCT	ENSP00000493194.1:n.798-170_798-169delinsCT
ENST00000641332.1:c.*164-170_*164-169delinsCT	ENSP00000493397.1:n.*164-170_*164-169delinsCT
ENST00000641340.1:c.*232-170_*232-169delinsCT	ENSP00000493191.1:n.*232-170_*232-169delinsCT
ENST00000641388.1:n.350-170_350-169delinsCT
ENST00000641393.1:c.571_572delinsCT	ENSP00000493197.1:p.Leu191=
ENST00000641397.1:c.684-170_684-169delinsCT	ENSP00000493406.1:n.684-170_684-169delinsCT
ENST00000641413.1:c.28-170_28-169delinsCT
ENST00000641434.1:c.1021_1022delinsCT	ENSP00000493279.1:p.Leu341=
ENST00000641464.1:c.*254_*255delinsCT	ENSP00000493438.1:n.*254_*255delinsCT
ENST00000641482.1:c.999-170_999-169delinsCT	ENSP00000493277.1:n.999-170_999-169delinsCT
ENST00000641508.1:c.*254_*255delinsCT	ENSP00000493209.1:n.*254_*255delinsCT
ENST00000641509.1:c.706_707delinsCT	ENSP00000493459.1:p.Leu236=
ENST00000641538.1:c.732_733delinsCT
ENST00000641590.1:c.885-170_885-169delinsCT	ENSP00000493132.1:n.885-170_885-169delinsCT
ENST00000641658.1:c.*186_*187delinsCT	ENSP00000492987.1:n.*186_*187delinsCT
ENST00000641686.2:c.1021_1022delinsCT MANE Select	ENSP00000493218.2:p.Leu341=
ENST00000641690.1:c.820_821delinsCT	ENSP00000492966.1:p.Leu274=
ENST00000641742.1:c.*186_*187delinsCT	ENSP00000493315.1:n.*186_*187delinsCT
ENST00000641748.1:c.1021_1022delinsCT	ENSP00000493330.1:p.Leu341=
ENST00000641753.1:c.848_849delinsCT
ENST00000641774.1:c.*273_*274delinsCT	ENSP00000492960.1:n.*273_*274delinsCT
ENST00000641830.1:c.335-170_335-169delinsCT
ENST00000641843.1:c.*164-170_*164-169delinsCT	ENSP00000493174.1:n.*164-170_*164-169delinsCT
ENST00000641869.1:c.304-170_304-169delinsCT
ENST00000641870.1:c.*164-170_*164-169delinsCT	ENSP00000493044.1:n.*164-170_*164-169delinsCT
ENST00000641882.1:c.*186_*187delinsCT	ENSP00000493301.1:n.*186_*187delinsCT
ENST00000641928.1:c.*232-170_*232-169delinsCT	ENSP00000493418.1:n.*232-170_*232-169delinsCT
ENST00000641949.1:c.554-1105_554-1104delinsCT	ENSP00000492891.1:n.554-1105_554-1104delinsCT
ENST00000642012.1:n.885_886delinsCT
ENST00000642034.1:c.885-170_885-169delinsCT	ENSP00000493285.1:n.885-170_885-169delinsCT
ENST00000642042.1:c.1021_1022delinsCT	ENSP00000493260.1:p.Leu341=
ENST00000642078.1:c.*164-170_*164-169delinsCT	ENSP00000492885.1:n.*164-170_*164-169delinsCT
ENST00000296468.7:c.1021_1022delinsCT	ENSP00000296468.3:p.Leu341=
ENST00000504126.1:n.49_50delinsCT
ENST00000505284.5:n.894-170_894-169delinsCT
ENST00000509826.1:c.*254_*255delinsCT	ENSP00000421176.1:n.*254_*255delinsCT
ENST00000513559.5:c.886_887delinsCT	ENSP00000425000.1:p.Leu296=
ENST00000515130.5:n.1445-170_1445-169delinsCT
NM_152778.2:c.1021_1022delinsCT	NP_689991.1:p.Leu341=
XM_005262893.1:c.1021_1022delinsCT	XP_005262950.1:p.Leu341=
XM_005262896.1:c.874_875delinsCT	XP_005262953.1:p.Leu292=
XM_005262897.1:c.820_821delinsCT	XP_005262954.1:p.Leu274=
XM_005262898.2:c.999-170_999-169delinsCT	XP_005262955.1:n.999-170_999-169delinsCT
XM_011531830.1:c.907_908delinsCT	XP_011530132.1:p.Leu303=
XM_011531831.1:c.706_707delinsCT	XP_011530133.1:p.Leu236=
XM_011531832.1:c.885-170_885-169delinsCT	XP_011530134.1:n.885-170_885-169delinsCT
XR_938717.1:n.1098_1099delinsCT
NM_001363520.1:c.820_821delinsCT	NP_001350449.1:p.Leu274=
NM_001363521.1:c.706_707delinsCT	NP_001350450.1:p.Leu236=
XM_005262898.3:c.999-170_999-169delinsCT	XP_005262955.1:n.999-170_999-169delinsCT
XM_017007989.1:c.798-170_798-169delinsCT	XP_016863478.1:n.798-170_798-169delinsCT
XM_024453981.1:c.886_887delinsCT	XP_024309749.1:p.Leu296=
XM_024453982.1:c.772_773delinsCT	XP_024309750.1:p.Leu258=
XM_024453983.1:c.571_572delinsCT	XP_024309751.1:p.Leu191=
XR_001741194.1:n.1076-170_1076-169delinsCT
XR_001741195.1:n.962-170_962-169delinsCT
XR_001741196.1:n.875-170_875-169delinsCT
XR_001741197.1:n.953_954delinsCT
XR_001741198.2:n.931-170_931-169delinsCT
XR_001741199.1:n.931-170_931-169delinsCT
XR_938717.2:n.1098_1099delinsCT
NM_001363520.2:c.820_821delinsCT	NP_001350449.1:p.Leu274=
NM_001363521.2:c.706_707delinsCT	NP_001350450.1:p.Leu236=
NM_001371590.1:c.886_887delinsCT	NP_001358519.1:p.Leu296=
NM_001371591.1:c.1021_1022delinsCT	NP_001358520.1:p.Leu341=
NM_001371592.1:c.1027_1028delinsCT	NP_001358521.1:p.Leu343=
NM_001371593.1:c.907_908delinsCT	NP_001358522.1:p.Leu303=
NM_001371594.1:c.874_875delinsCT	NP_001358523.1:p.Leu292=
NM_001371595.1:c.739_740delinsCT	NP_001358524.1:p.Leu247=
NM_001371596.2:c.1021_1022delinsCT MANE Select	NP_001358525.1:p.Leu341=
NM_152778.3:c.1021_1022delinsCT	NP_689991.1:p.Leu341=
NM_152778.4:c.1021_1022delinsCT	NP_689991.1:p.Leu341=