Canonical Allele Identifier: CA523274615

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1265905521
• gnomAD v2: 1-55075059-T-TCGCCCCCAGCTGGG
• gnomAD v3: 1-54609386-T-TCGCCCCCAGCTGGG
• gnomAD v4: 1-54609386-T-TCGCCCCCAGCTGGG
• MyVariant Identifiers: chr1:g.55075059_55075060insCGCCCCCAGCTGGG (hg19) ; chr1:g.54609386_54609387insCGCCCCCAGCTGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609387_54609400dup , CM000663.2:g.54609387_54609400dup	GRCh38
NC_000001.10:g.55075060_55075073dup , CM000663.1:g.55075060_55075073dup	GRCh37
NC_000001.9:g.54847648_54847661dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1626_1639dup (FAM151A) MANE Select	ENSP00000306888.2:p.Asp547AlafsTer10
ENST00000343744.7:c.*275_*288dup (ACOT11) MANE Select	ENSP00000340260.2:n.*275_*288dup
ENST00000302250.6:c.1626_1639dup (FAM151A)	ENSP00000306888.2:p.Asp547AlafsTer10
ENST00000343744.6:c.*275_*288dup (ACOT11)	ENSP00000340260.2:n.*275_*288dup
ENST00000371304.2:c.1065_1078dup (FAM151A)	ENSP00000360353.2:p.Asp360AlafsTer10
ENST00000371316.3:c.1629+1319_1629+1332dup (ACOT11)	ENSP00000360366.3:n.1629+1319_1629+1332dup
ENST00000481208.5:n.2138_2151dup (ACOT11)
NM_015547.3:c.1629+1319_1629+1332dup (ACOT11)	NP_056362.1:n.1629+1319_1629+1332dup
NM_147161.3:c.*275_*288dup (ACOT11)	NP_671517.1:n.*275_*288dup
NM_176782.2:c.1626_1639dup (FAM151A)	NP_788954.2:p.Asp547AlafsTer10
XM_006710599.2:c.1548_1561dup (FAM151A)	XP_006710662.1:p.Asp521AlafsTer10
XM_006710599.3:c.1548_1561dup (FAM151A)	XP_006710662.1:p.Asp521AlafsTer10
NM_176782.3:c.1626_1639dup (FAM151A) MANE Select	NP_788954.2:p.Asp547AlafsTer10
NM_015547.4:c.1629+1319_1629+1332dup (ACOT11)	NP_056362.1:n.1629+1319_1629+1332dup
NM_147161.4:c.*275_*288dup (ACOT11) MANE Select	NP_671517.1:n.*275_*288dup