Canonical Allele Identifier: CA523274648

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1313197434
• gnomAD v2: 1-55075293-TCAGCCACAGCTGTAAGCAGCTCTCTGC-T
• gnomAD v4: 1-54609620-TCAGCCACAGCTGTAAGCAGCTCTCTGC-T
• MyVariant Identifiers: chr1:g.55075294_55075320del (hg19) ; chr1:g.54609621_54609647del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609629_54609655del , CM000663.2:g.54609629_54609655del	GRCh38
NC_000001.10:g.55075302_55075328del , CM000663.1:g.55075302_55075328del	GRCh37
NC_000001.9:g.54847890_54847916del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1379_1405del (FAM151A) MANE Select	ENSP00000306888.2:p.Gly460_Ala468del
ENST00000343744.7:c.*517_*543del (ACOT11) MANE Select	ENSP00000340260.2:n.*517_*543del
ENST00000302250.6:c.1379_1405del (FAM151A)	ENSP00000306888.2:p.Gly460_Ala468del
ENST00000343744.6:c.*517_*543del (ACOT11)	ENSP00000340260.2:n.*517_*543del
ENST00000371304.2:c.918-100_918-74del (FAM151A)	ENSP00000360353.2:n.918-100_918-74del
ENST00000371316.3:c.1629+1561_1629+1587del (ACOT11)	ENSP00000360366.3:n.1629+1561_1629+1587del
ENST00000481208.5:n.2380_2406del (ACOT11)
NM_015547.3:c.1629+1561_1629+1587del (ACOT11)	NP_056362.1:n.1629+1561_1629+1587del
NM_147161.3:c.*517_*543del (ACOT11)	NP_671517.1:n.*517_*543del
NM_176782.2:c.1379_1405del (FAM151A)	NP_788954.2:p.Gly460_Ala468del
XM_006710599.2:c.1301_1327del (FAM151A)	XP_006710662.1:p.Gly434_Ala442del
XM_006710599.3:c.1301_1327del (FAM151A)	XP_006710662.1:p.Gly434_Ala442del
NM_176782.3:c.1379_1405del (FAM151A) MANE Select	NP_788954.2:p.Gly460_Ala468del
NM_015547.4:c.1629+1561_1629+1587del (ACOT11)	NP_056362.1:n.1629+1561_1629+1587del
NM_147161.4:c.*517_*543del (ACOT11) MANE Select	NP_671517.1:n.*517_*543del