Canonical Allele Identifier: CA523274621

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1464376401
• gnomAD v2: 1-55075415-CAGCAAGGCCAGGGATGGCCGGAGGGCTGCGGGCT-C
• gnomAD v4: 1-54609742-CAGCAAGGCCAGGGATGGCCGGAGGGCTGCGGGCT-C
• MyVariant Identifiers: chr1:g.55075416_55075449del (hg19) ; chr1:g.54609743_54609776del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609743_54609776del , CM000663.2:g.54609743_54609776del	GRCh38
NC_000001.10:g.55075416_55075449del , CM000663.1:g.55075416_55075449del	GRCh37
NC_000001.9:g.54848004_54848037del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1250_1283del (FAM151A) MANE Select	ENSP00000306888.2:p.Glu417GlyfsTer?
ENST00000343744.7:c.*631_*664del (ACOT11) MANE Select	ENSP00000340260.2:n.*631_*664del
ENST00000302250.6:c.1250_1283del (FAM151A)	ENSP00000306888.2:p.Glu417GlyfsTer?
ENST00000343744.6:c.*631_*664del (ACOT11)	ENSP00000340260.2:n.*631_*664del
ENST00000371304.2:c.918-229_918-196del (FAM151A)	ENSP00000360353.2:n.918-229_918-196del
ENST00000371316.3:c.1629+1675_1629+1708del (ACOT11)	ENSP00000360366.3:n.1629+1675_1629+1708del
ENST00000481208.5:n.2494_2527del (ACOT11)
NM_015547.3:c.1629+1675_1629+1708del (ACOT11)	NP_056362.1:n.1629+1675_1629+1708del
NM_147161.3:c.*631_*664del (ACOT11)	NP_671517.1:n.*631_*664del
NM_176782.2:c.1250_1283del (FAM151A)	NP_788954.2:p.Glu417GlyfsTer?
XM_006710599.2:c.1172_1205del (FAM151A)	XP_006710662.1:p.Glu391GlyfsTer?
XM_006710599.3:c.1172_1205del (FAM151A)	XP_006710662.1:p.Glu391GlyfsTer?
NM_176782.3:c.1250_1283del (FAM151A) MANE Select	NP_788954.2:p.Glu417GlyfsTer?
NM_015547.4:c.1629+1675_1629+1708del (ACOT11)	NP_056362.1:n.1629+1675_1629+1708del
NM_147161.4:c.*631_*664del (ACOT11) MANE Select	NP_671517.1:n.*631_*664del