Canonical Allele Identifier: CA2645794469

Gene: FAM151A ACOT11

Linked Data

• gnomAD v4: 1-54609397-T-TCACAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609397_54609398insCACAGA , CM000663.2:g.54609397_54609398insCACAGA	GRCh38
NC_000001.10:g.55075070_55075071insCACAGA , CM000663.1:g.55075070_55075071insCACAGA	GRCh37
NC_000001.9:g.54847658_54847659insCACAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1628_1629insTCTGTG (FAM151A) MANE Select	ENSP00000306888.2:p.Pro544LeufsTer2
ENST00000343744.7:c.*285_*286insCACAGA (ACOT11) MANE Select	ENSP00000340260.2:n.*285_*286insCACAGA
ENST00000302250.6:c.1628_1629insTCTGTG (FAM151A)	ENSP00000306888.2:p.Pro544LeufsTer2
ENST00000343744.6:c.*285_*286insCACAGA (ACOT11)	ENSP00000340260.2:n.*285_*286insCACAGA
ENST00000371304.2:c.1067_1068insTCTGTG (FAM151A)	ENSP00000360353.2:p.Pro357LeufsTer2
ENST00000371316.3:c.1629+1329_1629+1330insCACAGA (ACOT11)	ENSP00000360366.3:n.1629+1329_1629+1330insCACAGA
ENST00000481208.5:n.2148_2149insCACAGA (ACOT11)
NM_015547.3:c.1629+1329_1629+1330insCACAGA (ACOT11)	NP_056362.1:n.1629+1329_1629+1330insCACAGA
NM_147161.3:c.*285_*286insCACAGA (ACOT11)	NP_671517.1:n.*285_*286insCACAGA
NM_176782.2:c.1628_1629insTCTGTG (FAM151A)	NP_788954.2:p.Pro544LeufsTer2
XM_006710599.2:c.1550_1551insTCTGTG (FAM151A)	XP_006710662.1:p.Pro518LeufsTer2
XM_006710599.3:c.1550_1551insTCTGTG (FAM151A)	XP_006710662.1:p.Pro518LeufsTer2
NM_176782.3:c.1628_1629insTCTGTG (FAM151A) MANE Select	NP_788954.2:p.Pro544LeufsTer2
NM_015547.4:c.1629+1329_1629+1330insCACAGA (ACOT11)	NP_056362.1:n.1629+1329_1629+1330insCACAGA
NM_147161.4:c.*285_*286insCACAGA (ACOT11) MANE Select	NP_671517.1:n.*285_*286insCACAGA