Canonical Allele Identifier: CA555019802

Gene: MFSD8

Linked Data

• dbSNP Id: rs1560718060
• gnomAD v2: 4-128842927-CTGTAAAAACAAAACCATTGCAGTGCATTACTTGTTGATTTTAGATAA-C
• MyVariant Identifiers: chr4:g.128842928_128842974del (hg19) ; chr4:g.127921773_127921819del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921773_127921819del , CM000666.2:g.127921773_127921819del	GRCh38
NC_000004.11:g.128842928_128842974del , CM000666.1:g.128842928_128842974del	GRCh37
NC_000004.10:g.129062378_129062424del	NCBI36
NG_008657.1:g.49166_49212del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296468.8:c.1102+41_1103-2del	ENSP00000296468.3:n.1102+41_1103-2del
ENST00000509826.2:c.*376_*422del	ENSP00000421176.2:n.*376_*422del
ENST00000513559.6:c.820+41_821-2del	ENSP00000425000.2:n.820+41_821-2del
ENST00000515130.6:c.864-48_864-2del	ENSP00000493056.1:n.864-48_864-2del
ENST00000641025.1:c.999-48_999-2del	ENSP00000493346.1:n.999-48_999-2del
ENST00000641092.1:c.798-48_798-2del	ENSP00000493392.1:n.798-48_798-2del
ENST00000641133.1:c.*416+41_*417-2del	ENSP00000493192.1:n.*416+41_*417-2del
ENST00000641146.1:n.968+41_969-2del
ENST00000641147.1:c.652+41_653-2del	ENSP00000493133.1:n.652+41_653-2del
ENST00000641178.1:c.967+41_968-2del	ENSP00000492989.1:n.967+41_968-2del
ENST00000641186.1:c.988+41_989-2del	ENSP00000493347.1:n.988+41_989-2del
ENST00000641228.1:c.798-48_798-2del	ENSP00000493194.1:n.798-48_798-2del
ENST00000641332.1:c.*164-48_*164-2del	ENSP00000493397.1:n.*164-48_*164-2del
ENST00000641340.1:c.*232-48_*232-2del	ENSP00000493191.1:n.*232-48_*232-2del
ENST00000641388.1:n.350-48_350-2del
ENST00000641393.1:c.652+41_653-2del	ENSP00000493197.1:n.652+41_653-2del
ENST00000641397.1:c.684-48_684-2del	ENSP00000493406.1:n.684-48_684-2del
ENST00000641413.1:c.28-48_28-2del
ENST00000641434.1:c.1102+41_1103-2del	ENSP00000493279.1:n.1102+41_1103-2del
ENST00000641464.1:c.*335+41_*336-2del	ENSP00000493438.1:n.*335+41_*336-2del
ENST00000641482.1:c.999-48_999-2del	ENSP00000493277.1:n.999-48_999-2del
ENST00000641508.1:c.*335+41_*336-2del	ENSP00000493209.1:n.*335+41_*336-2del
ENST00000641509.1:c.787+41_788-2del	ENSP00000493459.1:n.787+41_788-2del
ENST00000641590.1:c.885-48_885-2del	ENSP00000493132.1:n.885-48_885-2del
ENST00000641658.1:c.*267+41_*268-2del	ENSP00000492987.1:n.*267+41_*268-2del
ENST00000641686.2:c.1102+41_1103-2del MANE Select	ENSP00000493218.2:n.1102+41_1103-2del
ENST00000641690.1:c.901+41_902-2del	ENSP00000492966.1:n.901+41_902-2del
ENST00000641742.1:c.*267+41_*268-2del	ENSP00000493315.1:n.*267+41_*268-2del
ENST00000641748.1:c.1102+41_1103-2del	ENSP00000493330.1:n.1102+41_1103-2del
ENST00000641753.1:c.929+41_930-2del
ENST00000641774.1:c.*354+41_*355-2del	ENSP00000492960.1:n.*354+41_*355-2del
ENST00000641830.1:c.335-48_335-2del
ENST00000641843.1:c.*164-48_*164-2del	ENSP00000493174.1:n.*164-48_*164-2del
ENST00000641869.1:c.304-48_304-2del
ENST00000641870.1:c.*164-48_*164-2del	ENSP00000493044.1:n.*164-48_*164-2del
ENST00000641882.1:c.*267+41_*268-2del	ENSP00000493301.1:n.*267+41_*268-2del
ENST00000641928.1:c.*232-48_*232-2del	ENSP00000493418.1:n.*232-48_*232-2del
ENST00000641949.1:c.554-983_554-937del	ENSP00000492891.1:n.554-983_554-937del
ENST00000642012.1:n.966+41_967-2del
ENST00000642034.1:c.885-48_885-2del	ENSP00000493285.1:n.885-48_885-2del
ENST00000642042.1:c.1102+41_1103-2del	ENSP00000493260.1:n.1102+41_1103-2del
ENST00000642078.1:c.*164-48_*164-2del	ENSP00000492885.1:n.*164-48_*164-2del
ENST00000296468.7:c.1102+41_1103-2del	ENSP00000296468.3:n.1102+41_1103-2del
ENST00000504126.1:n.130+41_131-2del
ENST00000505284.5:n.894-48_894-2del
ENST00000513559.5:c.967+41_968-2del	ENSP00000425000.1:n.967+41_968-2del
ENST00000515130.5:n.1445-48_1445-2del
NM_152778.2:c.1102+41_1103-2del	NP_689991.1:n.1102+41_1103-2del
XM_005262893.1:c.1102+41_1103-2del	XP_005262950.1:n.1102+41_1103-2del
XM_005262896.1:c.955+41_956-2del	XP_005262953.1:n.955+41_956-2del
XM_005262897.1:c.901+41_902-2del	XP_005262954.1:n.901+41_902-2del
XM_005262898.2:c.999-48_999-2del	XP_005262955.1:n.999-48_999-2del
XM_011531830.1:c.988+41_989-2del	XP_011530132.1:n.988+41_989-2del
XM_011531831.1:c.787+41_788-2del	XP_011530133.1:n.787+41_788-2del
XM_011531832.1:c.885-48_885-2del	XP_011530134.1:n.885-48_885-2del
XR_938717.1:n.1179+41_1180-2del
NM_001363520.1:c.901+41_902-2del	NP_001350449.1:n.901+41_902-2del
NM_001363521.1:c.787+41_788-2del	NP_001350450.1:n.787+41_788-2del
XM_005262898.3:c.999-48_999-2del	XP_005262955.1:n.999-48_999-2del
XM_017007989.1:c.798-48_798-2del	XP_016863478.1:n.798-48_798-2del
XM_024453981.1:c.967+41_968-2del	XP_024309749.1:n.967+41_968-2del
XM_024453982.1:c.853+41_854-2del	XP_024309750.1:n.853+41_854-2del
XM_024453983.1:c.652+41_653-2del	XP_024309751.1:n.652+41_653-2del
XR_001741194.1:n.1076-48_1076-2del
XR_001741195.1:n.962-48_962-2del
XR_001741196.1:n.875-48_875-2del
XR_001741197.1:n.1034+41_1035-2del
XR_001741198.2:n.931-48_931-2del
XR_001741199.1:n.931-48_931-2del
XR_938717.2:n.1179+41_1180-2del
NM_001363520.2:c.901+41_902-2del	NP_001350449.1:n.901+41_902-2del
NM_001363521.2:c.787+41_788-2del	NP_001350450.1:n.787+41_788-2del
NM_001371590.1:c.967+41_968-2del	NP_001358519.1:n.967+41_968-2del
NM_001371591.1:c.1102+41_1103-2del	NP_001358520.1:n.1102+41_1103-2del
NM_001371592.1:c.1108+41_1109-2del	NP_001358521.1:n.1108+41_1109-2del
NM_001371593.1:c.988+41_989-2del	NP_001358522.1:n.988+41_989-2del
NM_001371594.1:c.955+41_956-2del	NP_001358523.1:n.955+41_956-2del
NM_001371595.1:c.820+41_821-2del	NP_001358524.1:n.820+41_821-2del
NM_001371596.2:c.1102+41_1103-2del MANE Select	NP_001358525.1:n.1102+41_1103-2del
NM_152778.3:c.1102+41_1103-2del	NP_689991.1:n.1102+41_1103-2del
NM_152778.4:c.1102+41_1103-2del	NP_689991.1:n.1102+41_1103-2del