Canonical Allele Identifier: CA554738871

Gene: MFSD8

Linked Data

• dbSNP Id: rs1739544487
• gnomAD v2: 4-128859761-A-AT
• gnomAD v3: 4-127938606-A-AT
• gnomAD v4: 4-127938606-A-AT
• MyVariant Identifiers: chr4:g.128859761_128859762insT (hg19) ; chr4:g.127938606_127938607insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938606_127938607insT , CM000666.2:g.127938606_127938607insT	GRCh38
NC_000004.11:g.128859761_128859762insT , CM000666.1:g.128859761_128859762insT	GRCh37
NC_000004.10:g.129079211_129079212insT	NCBI36
NG_008657.1:g.32378_32379insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.754+176_754+177insA	ENSP00000296468.3:n.754+176_754+177insA
ENST00000505284.6:n.970+176_970+177insA
ENST00000509826.2:c.698+1246_698+1247insA	ENSP00000421176.2:n.698+1246_698+1247insA
ENST00000513559.6:c.472+176_472+177insA	ENSP00000425000.2:n.472+176_472+177insA
ENST00000515130.6:c.619+176_619+177insA	ENSP00000493056.1:n.619+176_619+177insA
ENST00000641025.1:c.754+176_754+177insA	ENSP00000493346.1:n.754+176_754+177insA
ENST00000641092.1:c.553+3438_553+3439insA	ENSP00000493392.1:n.553+3438_553+3439insA
ENST00000641133.1:c.*68+176_*68+177insA	ENSP00000493192.1:n.*68+176_*68+177insA
ENST00000641134.1:c.474+176_474+177insA	ENSP00000492925.1:n.474+176_474+177insA
ENST00000641147.1:c.304+5145_304+5146insA	ENSP00000493133.1:n.304+5145_304+5146insA
ENST00000641178.1:c.619+176_619+177insA	ENSP00000492989.1:n.619+176_619+177insA
ENST00000641186.1:c.640+176_640+177insA	ENSP00000493347.1:n.640+176_640+177insA
ENST00000641228.1:c.553+3438_553+3439insA	ENSP00000493194.1:n.553+3438_553+3439insA
ENST00000641243.1:c.609+176_609+177insA	ENSP00000493083.1:n.609+176_609+177insA
ENST00000641264.1:c.*551+176_*551+177insA	ENSP00000492908.1:n.*551+176_*551+177insA
ENST00000641332.1:c.609+176_609+177insA	ENSP00000493397.1:n.609+176_609+177insA
ENST00000641340.1:c.698+1246_698+1247insA	ENSP00000493191.1:n.698+1246_698+1247insA
ENST00000641369.1:c.250+176_250+177insA	ENSP00000493037.1:n.250+176_250+177insA
ENST00000641393.1:c.304+5145_304+5146insA	ENSP00000493197.1:n.304+5145_304+5146insA
ENST00000641397.1:c.439+5145_439+5146insA	ENSP00000493406.1:n.439+5145_439+5146insA
ENST00000641434.1:c.754+176_754+177insA	ENSP00000493279.1:n.754+176_754+177insA
ENST00000641464.1:c.449+1246_449+1247insA	ENSP00000493438.1:n.449+1246_449+1247insA
ENST00000641482.1:c.754+176_754+177insA	ENSP00000493277.1:n.754+176_754+177insA
ENST00000641503.1:c.640+176_640+177insA	ENSP00000493304.1:n.640+176_640+177insA
ENST00000641508.1:c.698+1246_698+1247insA	ENSP00000493209.1:n.698+1246_698+1247insA
ENST00000641509.1:c.439+5145_439+5146insA	ENSP00000493459.1:n.439+5145_439+5146insA
ENST00000641538.1:c.600+176_600+177insA
ENST00000641590.1:c.640+176_640+177insA	ENSP00000493132.1:n.640+176_640+177insA
ENST00000641658.1:c.474+176_474+177insA	ENSP00000492987.1:n.474+176_474+177insA
ENST00000641686.2:c.754+176_754+177insA MANE Select	ENSP00000493218.2:n.754+176_754+177insA
ENST00000641690.1:c.553+3438_553+3439insA	ENSP00000492966.1:n.553+3438_553+3439insA
ENST00000641695.1:c.*38+176_*38+177insA	ENSP00000493134.1:n.*38+176_*38+177insA
ENST00000641742.1:c.609+176_609+177insA	ENSP00000493315.1:n.609+176_609+177insA
ENST00000641743.1:c.754+176_754+177insA	ENSP00000493130.1:n.754+176_754+177insA
ENST00000641748.1:c.754+176_754+177insA	ENSP00000493330.1:n.754+176_754+177insA
ENST00000641753.1:c.581+176_581+177insA
ENST00000641774.1:c.584+1246_584+1247insA	ENSP00000492960.1:n.584+1246_584+1247insA
ENST00000641776.1:c.*306+176_*306+177insA	ENSP00000493261.1:n.*306+176_*306+177insA
ENST00000641830.1:c.90+176_90+177insA
ENST00000641843.1:c.360+176_360+177insA	ENSP00000493174.1:n.360+176_360+177insA
ENST00000641869.1:c.59+176_59+177insA
ENST00000641870.1:c.609+176_609+177insA	ENSP00000493044.1:n.609+176_609+177insA
ENST00000641882.1:c.495+176_495+177insA	ENSP00000493301.1:n.495+176_495+177insA
ENST00000641928.1:c.449+1246_449+1247insA	ENSP00000493418.1:n.449+1246_449+1247insA
ENST00000641949.1:c.553+3438_553+3439insA	ENSP00000492891.1:n.553+3438_553+3439insA
ENST00000642012.1:n.618+176_618+177insA
ENST00000642034.1:c.640+176_640+177insA	ENSP00000493285.1:n.640+176_640+177insA
ENST00000642042.1:c.754+176_754+177insA	ENSP00000493260.1:n.754+176_754+177insA
ENST00000642078.1:c.474+176_474+177insA	ENSP00000492885.1:n.474+176_474+177insA
ENST00000642121.1:n.91-7790_91-7789insA
ENST00000296468.7:c.754+176_754+177insA	ENSP00000296468.3:n.754+176_754+177insA
ENST00000505284.5:n.649+176_649+177insA
ENST00000509826.1:c.449+1246_449+1247insA	ENSP00000421176.1:n.449+1246_449+1247insA
ENST00000513559.5:c.619+176_619+177insA	ENSP00000425000.1:n.619+176_619+177insA
ENST00000515130.5:n.1200+176_1200+177insA
NM_152778.2:c.754+176_754+177insA	NP_689991.1:n.754+176_754+177insA
XM_005262893.1:c.754+176_754+177insA	XP_005262950.1:n.754+176_754+177insA
XM_005262896.1:c.607+176_607+177insA	XP_005262953.1:n.607+176_607+177insA
XM_005262897.1:c.553+3438_553+3439insA	XP_005262954.1:n.553+3438_553+3439insA
XM_005262898.2:c.754+176_754+177insA	XP_005262955.1:n.754+176_754+177insA
XM_005262900.2:c.609+176_609+177insA	XP_005262957.1:n.609+176_609+177insA
XM_011531830.1:c.640+176_640+177insA	XP_011530132.1:n.640+176_640+177insA
XM_011531831.1:c.439+5145_439+5146insA	XP_011530133.1:n.439+5145_439+5146insA
XM_011531832.1:c.640+176_640+177insA	XP_011530134.1:n.640+176_640+177insA
XR_938717.1:n.831+176_831+177insA
NM_001363520.1:c.553+3438_553+3439insA	NP_001350449.1:n.553+3438_553+3439insA
NM_001363521.1:c.439+5145_439+5146insA	NP_001350450.1:n.439+5145_439+5146insA
XM_005262898.3:c.754+176_754+177insA	XP_005262955.1:n.754+176_754+177insA
XM_017007989.1:c.553+3438_553+3439insA	XP_016863478.1:n.553+3438_553+3439insA
XM_024453981.1:c.619+176_619+177insA	XP_024309749.1:n.619+176_619+177insA
XM_024453982.1:c.505+176_505+177insA	XP_024309750.1:n.505+176_505+177insA
XM_024453983.1:c.304+5145_304+5146insA	XP_024309751.1:n.304+5145_304+5146insA
XR_001741194.1:n.831+176_831+177insA
XR_001741195.1:n.717+176_717+177insA
XR_001741196.1:n.630+3438_630+3439insA
XR_001741197.1:n.686+176_686+177insA
XR_001741198.2:n.686+176_686+177insA
XR_001741199.1:n.686+176_686+177insA
XR_938717.2:n.831+176_831+177insA
NM_001363520.2:c.553+3438_553+3439insA	NP_001350449.1:n.553+3438_553+3439insA
NM_001363521.2:c.439+5145_439+5146insA	NP_001350450.1:n.439+5145_439+5146insA
NM_001371590.1:c.619+176_619+177insA	NP_001358519.1:n.619+176_619+177insA
NM_001371591.1:c.754+176_754+177insA	NP_001358520.1:n.754+176_754+177insA
NM_001371592.1:c.760+176_760+177insA	NP_001358521.1:n.760+176_760+177insA
NM_001371593.1:c.640+176_640+177insA	NP_001358522.1:n.640+176_640+177insA
NM_001371594.1:c.607+176_607+177insA	NP_001358523.1:n.607+176_607+177insA
NM_001371595.1:c.472+176_472+177insA	NP_001358524.1:n.472+176_472+177insA
NM_001371596.2:c.754+176_754+177insA MANE Select	NP_001358525.1:n.754+176_754+177insA
NM_152778.3:c.754+176_754+177insA	NP_689991.1:n.754+176_754+177insA
NM_152778.4:c.754+176_754+177insA	NP_689991.1:n.754+176_754+177insA