Canonical Allele Identifier: CA523274609

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1557667606
• gnomAD v2: 1-55074971-CT-C
• gnomAD v4: 1-54609298-CT-C
• MyVariant Identifiers: chr1:g.55074972del (hg19) ; chr1:g.54609299del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609300del , CM000663.2:g.54609300del	GRCh38
NC_000001.10:g.55074973del , CM000663.1:g.55074973del	GRCh37
NC_000001.9:g.54847561del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1727del (FAM151A) MANE Select	ENSP00000306888.2:p.Lys576ArgfsTer?
ENST00000343744.7:c.*188del (ACOT11) MANE Select	ENSP00000340260.2:n.*188del
ENST00000302250.6:c.1727del (FAM151A)	ENSP00000306888.2:p.Lys576ArgfsTer?
ENST00000343744.6:c.*188del (ACOT11)	ENSP00000340260.2:n.*188del
ENST00000371304.2:c.1166del (FAM151A)	ENSP00000360353.2:p.Lys389ArgfsTer?
ENST00000371316.3:c.1629+1232del (ACOT11)	ENSP00000360366.3:n.1629+1232del
ENST00000481208.5:n.2051del (ACOT11)
NM_015547.3:c.1629+1232del (ACOT11)	NP_056362.1:n.1629+1232del
NM_147161.3:c.*188del (ACOT11)	NP_671517.1:n.*188del
NM_176782.2:c.1727del (FAM151A)	NP_788954.2:p.Lys576ArgfsTer?
XM_006710599.2:c.1649del (FAM151A)	XP_006710662.1:p.Lys550ArgfsTer?
XM_006710599.3:c.1649del (FAM151A)	XP_006710662.1:p.Lys550ArgfsTer?
NM_176782.3:c.1727del (FAM151A) MANE Select	NP_788954.2:p.Lys576ArgfsTer?
NM_015547.4:c.1629+1232del (ACOT11)	NP_056362.1:n.1629+1232del
NM_147161.4:c.*188del (ACOT11) MANE Select	NP_671517.1:n.*188del