Canonical Allele Identifier: CA523274640

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1557668057
• gnomAD v2: 1-55075228-CCCTGTAG-C
• gnomAD v4: 1-54609555-CCCTGTAG-C
• MyVariant Identifiers: chr1:g.55075229_55075235del (hg19) ; chr1:g.54609556_54609562del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609558_54609564del , CM000663.2:g.54609558_54609564del	GRCh38
NC_000001.10:g.55075231_55075237del , CM000663.1:g.55075231_55075237del	GRCh37
NC_000001.9:g.54847819_54847825del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1464_1470del (FAM151A) MANE Select	ENSP00000306888.2:p.Tyr489AsnfsTer8
ENST00000343744.7:c.*446_*452del (ACOT11) MANE Select	ENSP00000340260.2:n.*446_*452del
ENST00000302250.6:c.1464_1470del (FAM151A)	ENSP00000306888.2:p.Tyr489AsnfsTer8
ENST00000343744.6:c.*446_*452del (ACOT11)	ENSP00000340260.2:n.*446_*452del
ENST00000371304.2:c.918-15_918-9del (FAM151A)	ENSP00000360353.2:n.918-15_918-9del
ENST00000371316.3:c.1629+1490_1629+1496del (ACOT11)	ENSP00000360366.3:n.1629+1490_1629+1496del
ENST00000481208.5:n.2309_2315del (ACOT11)
NM_015547.3:c.1629+1490_1629+1496del (ACOT11)	NP_056362.1:n.1629+1490_1629+1496del
NM_147161.3:c.*446_*452del (ACOT11)	NP_671517.1:n.*446_*452del
NM_176782.2:c.1464_1470del (FAM151A)	NP_788954.2:p.Tyr489AsnfsTer8
XM_006710599.2:c.1386_1392del (FAM151A)	XP_006710662.1:p.Tyr463AsnfsTer8
XM_006710599.3:c.1386_1392del (FAM151A)	XP_006710662.1:p.Tyr463AsnfsTer8
NM_176782.3:c.1464_1470del (FAM151A) MANE Select	NP_788954.2:p.Tyr489AsnfsTer8
NM_015547.4:c.1629+1490_1629+1496del (ACOT11)	NP_056362.1:n.1629+1490_1629+1496del
NM_147161.4:c.*446_*452del (ACOT11) MANE Select	NP_671517.1:n.*446_*452del