Canonical Allele Identifier: CA1067849368

Gene: MFSD8

Linked Data

• dbSNP Id: rs1736414940
• gnomAD v3: 4-127922035-TA-T
• gnomAD v4: 4-127922035-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127922040del , CM000666.2:g.127922040del	GRCh38
NC_000004.11:g.128843195del , CM000666.1:g.128843195del	GRCh37
NC_000004.10:g.129062645del	NCBI36
NG_008657.1:g.48949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.999-73del	ENSP00000296468.3:n.999-73del
ENST00000509826.2:c.*232-73del	ENSP00000421176.2:n.*232-73del
ENST00000513559.6:c.717-73del	ENSP00000425000.2:n.717-73del
ENST00000515130.6:c.864-265del	ENSP00000493056.1:n.864-265del
ENST00000641025.1:c.999-265del	ENSP00000493346.1:n.999-265del
ENST00000641092.1:c.798-265del	ENSP00000493392.1:n.798-265del
ENST00000641133.1:c.*313-73del	ENSP00000493192.1:n.*313-73del
ENST00000641146.1:n.865-73del
ENST00000641147.1:c.549-73del	ENSP00000493133.1:n.549-73del
ENST00000641178.1:c.864-73del	ENSP00000492989.1:n.864-73del
ENST00000641186.1:c.885-73del	ENSP00000493347.1:n.885-73del
ENST00000641228.1:c.798-265del	ENSP00000493194.1:n.798-265del
ENST00000641332.1:c.*164-265del	ENSP00000493397.1:n.*164-265del
ENST00000641340.1:c.*232-265del	ENSP00000493191.1:n.*232-265del
ENST00000641388.1:n.350-265del
ENST00000641393.1:c.549-73del	ENSP00000493197.1:n.549-73del
ENST00000641397.1:c.684-265del	ENSP00000493406.1:n.684-265del
ENST00000641413.1:c.28-265del
ENST00000641434.1:c.999-73del	ENSP00000493279.1:n.999-73del
ENST00000641464.1:c.*232-73del	ENSP00000493438.1:n.*232-73del
ENST00000641482.1:c.999-265del	ENSP00000493277.1:n.999-265del
ENST00000641508.1:c.*232-73del	ENSP00000493209.1:n.*232-73del
ENST00000641509.1:c.684-73del	ENSP00000493459.1:n.684-73del
ENST00000641538.1:c.710-73del
ENST00000641590.1:c.885-265del	ENSP00000493132.1:n.885-265del
ENST00000641658.1:c.*164-73del	ENSP00000492987.1:n.*164-73del
ENST00000641686.2:c.999-73del MANE Select	ENSP00000493218.2:n.999-73del
ENST00000641690.1:c.798-73del	ENSP00000492966.1:n.798-73del
ENST00000641742.1:c.*164-73del	ENSP00000493315.1:n.*164-73del
ENST00000641748.1:c.999-73del	ENSP00000493330.1:n.999-73del
ENST00000641753.1:c.826-73del
ENST00000641774.1:c.*232-54del	ENSP00000492960.1:n.*232-54del
ENST00000641830.1:c.335-265del
ENST00000641843.1:c.*164-265del	ENSP00000493174.1:n.*164-265del
ENST00000641869.1:c.304-265del
ENST00000641870.1:c.*164-265del	ENSP00000493044.1:n.*164-265del
ENST00000641882.1:c.*164-73del	ENSP00000493301.1:n.*164-73del
ENST00000641928.1:c.*232-265del	ENSP00000493418.1:n.*232-265del
ENST00000641949.1:c.554-1200del	ENSP00000492891.1:n.554-1200del
ENST00000642012.1:n.863-73del
ENST00000642034.1:c.885-265del	ENSP00000493285.1:n.885-265del
ENST00000642042.1:c.999-73del	ENSP00000493260.1:n.999-73del
ENST00000642078.1:c.*164-265del	ENSP00000492885.1:n.*164-265del
ENST00000296468.7:c.999-73del	ENSP00000296468.3:n.999-73del
ENST00000505284.5:n.894-265del
ENST00000509826.1:c.*232-73del	ENSP00000421176.1:n.*232-73del
ENST00000513559.5:c.864-73del	ENSP00000425000.1:n.864-73del
ENST00000515130.5:n.1445-265del
NM_152778.2:c.999-73del	NP_689991.1:n.999-73del
XM_005262893.1:c.999-73del	XP_005262950.1:n.999-73del
XM_005262896.1:c.852-73del	XP_005262953.1:n.852-73del
XM_005262897.1:c.798-73del	XP_005262954.1:n.798-73del
XM_005262898.2:c.999-265del	XP_005262955.1:n.999-265del
XM_011531830.1:c.885-73del	XP_011530132.1:n.885-73del
XM_011531831.1:c.684-73del	XP_011530133.1:n.684-73del
XM_011531832.1:c.885-265del	XP_011530134.1:n.885-265del
XR_938717.1:n.1076-73del
NM_001363520.1:c.798-73del	NP_001350449.1:n.798-73del
NM_001363521.1:c.684-73del	NP_001350450.1:n.684-73del
XM_005262898.3:c.999-265del	XP_005262955.1:n.999-265del
XM_017007989.1:c.798-265del	XP_016863478.1:n.798-265del
XM_024453981.1:c.864-73del	XP_024309749.1:n.864-73del
XM_024453982.1:c.750-73del	XP_024309750.1:n.750-73del
XM_024453983.1:c.549-73del	XP_024309751.1:n.549-73del
XR_001741194.1:n.1076-265del
XR_001741195.1:n.962-265del
XR_001741196.1:n.875-265del
XR_001741197.1:n.931-73del
XR_001741198.2:n.931-265del
XR_001741199.1:n.931-265del
XR_938717.2:n.1076-73del
NM_001363520.2:c.798-73del	NP_001350449.1:n.798-73del
NM_001363521.2:c.684-73del	NP_001350450.1:n.684-73del
NM_001371590.1:c.864-73del	NP_001358519.1:n.864-73del
NM_001371591.1:c.999-73del	NP_001358520.1:n.999-73del
NM_001371592.1:c.1005-73del	NP_001358521.1:n.1005-73del
NM_001371593.1:c.885-73del	NP_001358522.1:n.885-73del
NM_001371594.1:c.852-73del	NP_001358523.1:n.852-73del
NM_001371595.1:c.717-73del	NP_001358524.1:n.717-73del
NM_001371596.2:c.999-73del MANE Select	NP_001358525.1:n.999-73del
NM_152778.3:c.999-73del	NP_689991.1:n.999-73del
NM_152778.4:c.999-73del	NP_689991.1:n.999-73del