Canonical Allele Identifier: CA866856

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs755504666
• ExAC: 1:55075061 GC / G
• gnomAD v2: 1-55075061-GC-G
• gnomAD v3: 1-54609388-GC-G
• gnomAD v4: 1-54609388-GC-G
• MyVariant Identifiers: chr1:g.55075062del (hg19) ; chr1:g.54609389del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609393del , CM000663.2:g.54609393del	GRCh38
NC_000001.10:g.55075066del , CM000663.1:g.55075066del	GRCh37
NC_000001.9:g.54847654del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1637del (FAM151A) MANE Select	ENSP00000306888.2:p.Gly546AlafsTer6
ENST00000343744.7:c.*281del (ACOT11) MANE Select	ENSP00000340260.2:n.*281del
ENST00000302250.6:c.1637del (FAM151A)	ENSP00000306888.2:p.Gly546AlafsTer6
ENST00000343744.6:c.*281del (ACOT11)	ENSP00000340260.2:n.*281del
ENST00000371304.2:c.1076del (FAM151A)	ENSP00000360353.2:p.Gly359AlafsTer6
ENST00000371316.3:c.1629+1325del (ACOT11)	ENSP00000360366.3:n.1629+1325del
ENST00000481208.5:n.2144del (ACOT11)
NM_015547.3:c.1629+1325del (ACOT11)	NP_056362.1:n.1629+1325del
NM_147161.3:c.*281del (ACOT11)	NP_671517.1:n.*281del
NM_176782.2:c.1637del (FAM151A)	NP_788954.2:p.Gly546AlafsTer6
XM_006710599.2:c.1559del (FAM151A)	XP_006710662.1:p.Gly520AlafsTer6
XM_006710599.3:c.1559del (FAM151A)	XP_006710662.1:p.Gly520AlafsTer6
NM_176782.3:c.1637del (FAM151A) MANE Select	NP_788954.2:p.Gly546AlafsTer6
NM_015547.4:c.1629+1325del (ACOT11)	NP_056362.1:n.1629+1325del
NM_147161.4:c.*281del (ACOT11) MANE Select	NP_671517.1:n.*281del