Canonical Allele Identifier: CA523274614

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1174932344
• gnomAD v2: 1-55075052-GGCATAGTC-G
• gnomAD v4: 1-54609379-GGCATAGTC-G
• MyVariant Identifiers: chr1:g.55075053_55075060del (hg19) ; chr1:g.54609380_54609387del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609382_54609389del , CM000663.2:g.54609382_54609389del	GRCh38
NC_000001.10:g.55075055_55075062del , CM000663.1:g.55075055_55075062del	GRCh37
NC_000001.9:g.54847643_54847650del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1639_1646del (FAM151A) MANE Select	ENSP00000306888.2:p.Asp547LeufsTer10
ENST00000343744.7:c.*270_*277del (ACOT11) MANE Select	ENSP00000340260.2:n.*270_*277del
ENST00000302250.6:c.1639_1646del (FAM151A)	ENSP00000306888.2:p.Asp547LeufsTer10
ENST00000343744.6:c.*270_*277del (ACOT11)	ENSP00000340260.2:n.*270_*277del
ENST00000371304.2:c.1078_1085del (FAM151A)	ENSP00000360353.2:p.Asp360LeufsTer10
ENST00000371316.3:c.1629+1314_1629+1321del (ACOT11)	ENSP00000360366.3:n.1629+1314_1629+1321del
ENST00000481208.5:n.2133_2140del (ACOT11)
NM_015547.3:c.1629+1314_1629+1321del (ACOT11)	NP_056362.1:n.1629+1314_1629+1321del
NM_147161.3:c.*270_*277del (ACOT11)	NP_671517.1:n.*270_*277del
NM_176782.2:c.1639_1646del (FAM151A)	NP_788954.2:p.Asp547LeufsTer10
XM_006710599.2:c.1561_1568del (FAM151A)	XP_006710662.1:p.Asp521LeufsTer10
XM_006710599.3:c.1561_1568del (FAM151A)	XP_006710662.1:p.Asp521LeufsTer10
NM_176782.3:c.1639_1646del (FAM151A) MANE Select	NP_788954.2:p.Asp547LeufsTer10
NM_015547.4:c.1629+1314_1629+1321del (ACOT11)	NP_056362.1:n.1629+1314_1629+1321del
NM_147161.4:c.*270_*277del (ACOT11) MANE Select	NP_671517.1:n.*270_*277del