Canonical Allele Identifier: CA866879

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs745451468
• ExAC: 1:55075122 CCTATGGCTCCAGCTGTG / C
• gnomAD v2: 1-55075122-CCTATGGCTCCAGCTGTG-C
• gnomAD v3: 1-54609449-CCTATGGCTCCAGCTGTG-C
• gnomAD v4: 1-54609449-CCTATGGCTCCAGCTGTG-C
• MyVariant Identifiers: chr1:g.55075123_55075139del (hg19) ; chr1:g.54609451_54609467del (hg38) ; chr1:g.54609450_54609466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609452_54609468del , CM000663.2:g.54609452_54609468del	GRCh38
NC_000001.10:g.55075125_55075141del , CM000663.1:g.55075125_55075141del	GRCh37
NC_000001.9:g.54847713_54847729del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1560_1576del (FAM151A) MANE Select	ENSP00000306888.2:p.Ser520ArgfsTer?
ENST00000343744.7:c.*340_*356del (ACOT11) MANE Select	ENSP00000340260.2:n.*340_*356del
ENST00000302250.6:c.1560_1576del (FAM151A)	ENSP00000306888.2:p.Ser520ArgfsTer?
ENST00000343744.6:c.*340_*356del (ACOT11)	ENSP00000340260.2:n.*340_*356del
ENST00000371304.2:c.999_1015del (FAM151A)	ENSP00000360353.2:p.Ser333ArgfsTer?
ENST00000371316.3:c.1629+1384_1629+1400del (ACOT11)	ENSP00000360366.3:n.1629+1384_1629+1400del
ENST00000481208.5:n.2203_2219del (ACOT11)
NM_015547.3:c.1629+1384_1629+1400del (ACOT11)	NP_056362.1:n.1629+1384_1629+1400del
NM_147161.3:c.*340_*356del (ACOT11)	NP_671517.1:n.*340_*356del
NM_176782.2:c.1560_1576del (FAM151A)	NP_788954.2:p.Ser520ArgfsTer?
XM_006710599.2:c.1482_1498del (FAM151A)	XP_006710662.1:p.Ser494ArgfsTer?
XM_006710599.3:c.1482_1498del (FAM151A)	XP_006710662.1:p.Ser494ArgfsTer?
NM_176782.3:c.1560_1576del (FAM151A) MANE Select	NP_788954.2:p.Ser520ArgfsTer?
NM_015547.4:c.1629+1384_1629+1400del (ACOT11)	NP_056362.1:n.1629+1384_1629+1400del
NM_147161.4:c.*340_*356del (ACOT11) MANE Select	NP_671517.1:n.*340_*356del