Canonical Allele Identifier: CA22715753

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1054960754
• gnomAD v4: 1-54609705-CAGGCCAATGCAAG-C
• MyVariant Identifiers: chr1:g.55075379_55075391del (hg19) ; chr1:g.54609706_54609718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609713_54609725del , CM000663.2:g.54609713_54609725del	GRCh38
NC_000001.10:g.55075386_55075398del , CM000663.1:g.55075386_55075398del	GRCh37
NC_000001.9:g.54847974_54847986del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1308_1320del (FAM151A) MANE Select	ENSP00000306888.2:p.Leu437CysfsTer?
ENST00000343744.7:c.*601_*613del (ACOT11) MANE Select	ENSP00000340260.2:n.*601_*613del
ENST00000302250.6:c.1308_1320del (FAM151A)	ENSP00000306888.2:p.Leu437CysfsTer?
ENST00000343744.6:c.*601_*613del (ACOT11)	ENSP00000340260.2:n.*601_*613del
ENST00000371304.2:c.918-171_918-159del (FAM151A)	ENSP00000360353.2:n.918-171_918-159del
ENST00000371316.3:c.1629+1645_1629+1657del (ACOT11)	ENSP00000360366.3:n.1629+1645_1629+1657del
ENST00000481208.5:n.2464_2476del (ACOT11)
NM_015547.3:c.1629+1645_1629+1657del (ACOT11)	NP_056362.1:n.1629+1645_1629+1657del
NM_147161.3:c.*601_*613del (ACOT11)	NP_671517.1:n.*601_*613del
NM_176782.2:c.1308_1320del (FAM151A)	NP_788954.2:p.Leu437CysfsTer?
XM_006710599.2:c.1230_1242del (FAM151A)	XP_006710662.1:p.Leu411CysfsTer?
XM_006710599.3:c.1230_1242del (FAM151A)	XP_006710662.1:p.Leu411CysfsTer?
NM_176782.3:c.1308_1320del (FAM151A) MANE Select	NP_788954.2:p.Leu437CysfsTer?
NM_015547.4:c.1629+1645_1629+1657del (ACOT11)	NP_056362.1:n.1629+1645_1629+1657del
NM_147161.4:c.*601_*613del (ACOT11) MANE Select	NP_671517.1:n.*601_*613del