Canonical Allele Identifier: CA1001886534

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1644080674
• gnomAD v3: 1-54609296-TC-T
• gnomAD v4: 1-54609296-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609298del , CM000663.2:g.54609298del	GRCh38
NC_000001.10:g.55074971del , CM000663.1:g.55074971del	GRCh37
NC_000001.9:g.54847559del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1729del (FAM151A) MANE Select	ENSP00000306888.2:p.Asp577ThrfsTer?
ENST00000343744.7:c.*186del (ACOT11) MANE Select	ENSP00000340260.2:n.*186del
ENST00000302250.6:c.1729del (FAM151A)	ENSP00000306888.2:p.Asp577ThrfsTer?
ENST00000343744.6:c.*186del (ACOT11)	ENSP00000340260.2:n.*186del
ENST00000371304.2:c.1168del (FAM151A)	ENSP00000360353.2:p.Asp390ThrfsTer?
ENST00000371316.3:c.1629+1230del (ACOT11)	ENSP00000360366.3:n.1629+1230del
ENST00000481208.5:n.2049del (ACOT11)
NM_015547.3:c.1629+1230del (ACOT11)	NP_056362.1:n.1629+1230del
NM_147161.3:c.*186del (ACOT11)	NP_671517.1:n.*186del
NM_176782.2:c.1729del (FAM151A)	NP_788954.2:p.Asp577ThrfsTer?
XM_006710599.2:c.1651del (FAM151A)	XP_006710662.1:p.Asp551ThrfsTer?
XM_006710599.3:c.1651del (FAM151A)	XP_006710662.1:p.Asp551ThrfsTer?
NM_176782.3:c.1729del (FAM151A) MANE Select	NP_788954.2:p.Asp577ThrfsTer?
NM_015547.4:c.1629+1230del (ACOT11)	NP_056362.1:n.1629+1230del
NM_147161.4:c.*186del (ACOT11) MANE Select	NP_671517.1:n.*186del