Canonical Allele Identifier: CA1001886549

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1644080747
• gnomAD v3: 1-54609300-T-TGTGGTAGCCCTGGGGTAGCCTGTAGTAGACTC
• gnomAD v4: 1-54609300-T-TGTGGTAGCCCTGGGGTAGCCTGTAGTAGACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609302_54609333dup , CM000663.2:g.54609302_54609333dup	GRCh38
NC_000001.10:g.55074975_55075006dup , CM000663.1:g.55074975_55075006dup	GRCh37
NC_000001.9:g.54847563_54847594dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1694_1725dup (FAM151A) MANE Select	ENSP00000306888.2:p.Lys576GlufsTer?
ENST00000343744.7:c.*190_*221dup (ACOT11) MANE Select	ENSP00000340260.2:n.*190_*221dup
ENST00000302250.6:c.1694_1725dup (FAM151A)	ENSP00000306888.2:p.Lys576GlufsTer?
ENST00000343744.6:c.*190_*221dup (ACOT11)	ENSP00000340260.2:n.*190_*221dup
ENST00000371304.2:c.1133_1164dup (FAM151A)	ENSP00000360353.2:p.Lys389GlufsTer?
ENST00000371316.3:c.1629+1234_1629+1265dup (ACOT11)	ENSP00000360366.3:n.1629+1234_1629+1265dup
ENST00000481208.5:n.2053_2084dup (ACOT11)
NM_015547.3:c.1629+1234_1629+1265dup (ACOT11)	NP_056362.1:n.1629+1234_1629+1265dup
NM_147161.3:c.*190_*221dup (ACOT11)	NP_671517.1:n.*190_*221dup
NM_176782.2:c.1694_1725dup (FAM151A)	NP_788954.2:p.Lys576GlufsTer?
XM_006710599.2:c.1616_1647dup (FAM151A)	XP_006710662.1:p.Lys550GlufsTer?
XM_006710599.3:c.1616_1647dup (FAM151A)	XP_006710662.1:p.Lys550GlufsTer?
NM_176782.3:c.1694_1725dup (FAM151A) MANE Select	NP_788954.2:p.Lys576GlufsTer?
NM_015547.4:c.1629+1234_1629+1265dup (ACOT11)	NP_056362.1:n.1629+1234_1629+1265dup
NM_147161.4:c.*190_*221dup (ACOT11) MANE Select	NP_671517.1:n.*190_*221dup