Canonical Allele Identifier: CA523274651

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1557668183
• gnomAD v2: 1-55075319-GCCAGCCACATGGCCGGGGACCGAAAAACTCCCGTGGGAGATTTTGGCCCCAA-G
• gnomAD v4: 1-54609646-GCCAGCCACATGGCCGGGGACCGAAAAACTCCCGTGGGAGATTTTGGCCCCAA-G
• MyVariant Identifiers: chr1:g.55075320_55075371del (hg19) ; chr1:g.54609647_54609698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609649_54609700del , CM000663.2:g.54609649_54609700del	GRCh38
NC_000001.10:g.55075322_55075373del , CM000663.1:g.55075322_55075373del	GRCh37
NC_000001.9:g.54847910_54847961del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1328_1379del (FAM151A) MANE Select	ENSP00000306888.2:p.Val443AlafsTer15
ENST00000343744.7:c.*537_*588del (ACOT11) MANE Select	ENSP00000340260.2:n.*537_*588del
ENST00000302250.6:c.1328_1379del (FAM151A)	ENSP00000306888.2:p.Val443AlafsTer15
ENST00000343744.6:c.*537_*588del (ACOT11)	ENSP00000340260.2:n.*537_*588del
ENST00000371304.2:c.918-151_918-100del (FAM151A)	ENSP00000360353.2:n.918-151_918-100del
ENST00000371316.3:c.1629+1581_1629+1632del (ACOT11)	ENSP00000360366.3:n.1629+1581_1629+1632del
ENST00000481208.5:n.2400_2451del (ACOT11)
NM_015547.3:c.1629+1581_1629+1632del (ACOT11)	NP_056362.1:n.1629+1581_1629+1632del
NM_147161.3:c.*537_*588del (ACOT11)	NP_671517.1:n.*537_*588del
NM_176782.2:c.1328_1379del (FAM151A)	NP_788954.2:p.Val443AlafsTer15
XM_006710599.2:c.1250_1301del (FAM151A)	XP_006710662.1:p.Val417AlafsTer15
XM_006710599.3:c.1250_1301del (FAM151A)	XP_006710662.1:p.Val417AlafsTer15
NM_176782.3:c.1328_1379del (FAM151A) MANE Select	NP_788954.2:p.Val443AlafsTer15
NM_015547.4:c.1629+1581_1629+1632del (ACOT11)	NP_056362.1:n.1629+1581_1629+1632del
NM_147161.4:c.*537_*588del (ACOT11) MANE Select	NP_671517.1:n.*537_*588del