Canonical Allele Identifier: CA866850

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1557667764
• ExAC: 1:55075055 ATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG / A
• gnomAD v2: 1-55075055-ATAGTCGCCCCCAGCTGGGTTGTGCTCCACTGTGACGGTGGCCCGGGGGGAGGATGCCAG-A
• MyVariant Identifiers: chr1:g.55075056_55075114del (hg19) ; chr1:g.54609383_54609441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609383_54609441del , CM000663.2:g.54609383_54609441del	GRCh38
NC_000001.10:g.55075056_55075114del , CM000663.1:g.55075056_55075114del	GRCh37
NC_000001.9:g.54847644_54847702del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1585_1643del (FAM151A) MANE Select	ENSP00000306888.2:p.Leu529CysfsTer11
ENST00000343744.7:c.*271_*329del (ACOT11) MANE Select	ENSP00000340260.2:n.*271_*329del
ENST00000302250.6:c.1585_1643del (FAM151A)	ENSP00000306888.2:p.Leu529CysfsTer11
ENST00000343744.6:c.*271_*329del (ACOT11)	ENSP00000340260.2:n.*271_*329del
ENST00000371304.2:c.1024_1082del (FAM151A)	ENSP00000360353.2:p.Leu342CysfsTer11
ENST00000371316.3:c.1629+1315_1629+1373del (ACOT11)	ENSP00000360366.3:n.1629+1315_1629+1373del
ENST00000481208.5:n.2134_2192del (ACOT11)
NM_015547.3:c.1629+1315_1629+1373del (ACOT11)	NP_056362.1:n.1629+1315_1629+1373del
NM_147161.3:c.*271_*329del (ACOT11)	NP_671517.1:n.*271_*329del
NM_176782.2:c.1585_1643del (FAM151A)	NP_788954.2:p.Leu529CysfsTer11
XM_006710599.2:c.1507_1565del (FAM151A)	XP_006710662.1:p.Leu503CysfsTer11
XM_006710599.3:c.1507_1565del (FAM151A)	XP_006710662.1:p.Leu503CysfsTer11
NM_176782.3:c.1585_1643del (FAM151A) MANE Select	NP_788954.2:p.Leu529CysfsTer11
NM_015547.4:c.1629+1315_1629+1373del (ACOT11)	NP_056362.1:n.1629+1315_1629+1373del
NM_147161.4:c.*271_*329del (ACOT11) MANE Select	NP_671517.1:n.*271_*329del