Canonical Allele Identifier: CA523274617

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1557668267
• gnomAD v2: 1-55075365-G-GC
• gnomAD v4: 1-54609692-G-GC
• MyVariant Identifiers: chr1:g.55075365_55075366insC (hg19) ; chr1:g.54609692_54609693insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609696dup , CM000663.2:g.54609696dup	GRCh38
NC_000001.10:g.55075369dup , CM000663.1:g.55075369dup	GRCh37
NC_000001.9:g.54847957dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1333dup (FAM151A) MANE Select	ENSP00000306888.2:p.Ala445GlyfsTer25
ENST00000343744.7:c.*584dup (ACOT11) MANE Select	ENSP00000340260.2:n.*584dup
ENST00000302250.6:c.1333dup (FAM151A)	ENSP00000306888.2:p.Ala445GlyfsTer25
ENST00000343744.6:c.*584dup (ACOT11)	ENSP00000340260.2:n.*584dup
ENST00000371304.2:c.918-146dup (FAM151A)	ENSP00000360353.2:n.918-146dup
ENST00000371316.3:c.1629+1628dup (ACOT11)	ENSP00000360366.3:n.1629+1628dup
ENST00000481208.5:n.2447dup (ACOT11)
NM_015547.3:c.1629+1628dup (ACOT11)	NP_056362.1:n.1629+1628dup
NM_147161.3:c.*584dup (ACOT11)	NP_671517.1:n.*584dup
NM_176782.2:c.1333dup (FAM151A)	NP_788954.2:p.Ala445GlyfsTer25
XM_006710599.2:c.1255dup (FAM151A)	XP_006710662.1:p.Ala419GlyfsTer25
XM_006710599.3:c.1255dup (FAM151A)	XP_006710662.1:p.Ala419GlyfsTer25
NM_176782.3:c.1333dup (FAM151A) MANE Select	NP_788954.2:p.Ala445GlyfsTer25
NM_015547.4:c.1629+1628dup (ACOT11)	NP_056362.1:n.1629+1628dup
NM_147161.4:c.*584dup (ACOT11) MANE Select	NP_671517.1:n.*584dup