Canonical Allele Identifier: CA523274652

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1557668215
• gnomAD v2: 1-55075334-G-GA
• gnomAD v4: 1-54609661-G-GA
• MyVariant Identifiers: chr1:g.55075334_55075335insA (hg19) ; chr1:g.54609661_54609662insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609661_54609662insA , CM000663.2:g.54609661_54609662insA	GRCh38
NC_000001.10:g.55075334_55075335insA , CM000663.1:g.55075334_55075335insA	GRCh37
NC_000001.9:g.54847922_54847923insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1364_1365insT (FAM151A) MANE Select	ENSP00000306888.2:p.Gly456ArgfsTer14
ENST00000343744.7:c.*549_*550insA (ACOT11) MANE Select	ENSP00000340260.2:n.*549_*550insA
ENST00000302250.6:c.1364_1365insT (FAM151A)	ENSP00000306888.2:p.Gly456ArgfsTer14
ENST00000343744.6:c.*549_*550insA (ACOT11)	ENSP00000340260.2:n.*549_*550insA
ENST00000371304.2:c.918-115_918-114insT (FAM151A)	ENSP00000360353.2:n.918-115_918-114insT
ENST00000371316.3:c.1629+1593_1629+1594insA (ACOT11)	ENSP00000360366.3:n.1629+1593_1629+1594insA
ENST00000481208.5:n.2412_2413insA (ACOT11)
NM_015547.3:c.1629+1593_1629+1594insA (ACOT11)	NP_056362.1:n.1629+1593_1629+1594insA
NM_147161.3:c.*549_*550insA (ACOT11)	NP_671517.1:n.*549_*550insA
NM_176782.2:c.1364_1365insT (FAM151A)	NP_788954.2:p.Gly456ArgfsTer14
XM_006710599.2:c.1286_1287insT (FAM151A)	XP_006710662.1:p.Gly430ArgfsTer14
XM_006710599.3:c.1286_1287insT (FAM151A)	XP_006710662.1:p.Gly430ArgfsTer14
NM_176782.3:c.1364_1365insT (FAM151A) MANE Select	NP_788954.2:p.Gly456ArgfsTer14
NM_015547.4:c.1629+1593_1629+1594insA (ACOT11)	NP_056362.1:n.1629+1593_1629+1594insA
NM_147161.4:c.*549_*550insA (ACOT11) MANE Select	NP_671517.1:n.*549_*550insA