Canonical Allele Identifier: CA523274641

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1277802689
• gnomAD v2: 1-55075240-TGCCCAGCACCTCCTCAG-T
• gnomAD v4: 1-54609567-TGCCCAGCACCTCCTCAG-T
• MyVariant Identifiers: chr1:g.55075241_55075257del (hg19) ; chr1:g.54609568_54609584del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609571_54609587del , CM000663.2:g.54609571_54609587del	GRCh38
NC_000001.10:g.55075244_55075260del , CM000663.1:g.55075244_55075260del	GRCh37
NC_000001.9:g.54847832_54847848del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1442_1458del (FAM151A) MANE Select	ENSP00000306888.2:p.Pro481GlnfsTer?
ENST00000343744.7:c.*459_*475del (ACOT11) MANE Select	ENSP00000340260.2:n.*459_*475del
ENST00000302250.6:c.1442_1458del (FAM151A)	ENSP00000306888.2:p.Pro481GlnfsTer?
ENST00000343744.6:c.*459_*475del (ACOT11)	ENSP00000340260.2:n.*459_*475del
ENST00000371304.2:c.918-37_918-21del (FAM151A)	ENSP00000360353.2:n.918-37_918-21del
ENST00000371316.3:c.1629+1503_1629+1519del (ACOT11)	ENSP00000360366.3:n.1629+1503_1629+1519del
ENST00000481208.5:n.2322_2338del (ACOT11)
NM_015547.3:c.1629+1503_1629+1519del (ACOT11)	NP_056362.1:n.1629+1503_1629+1519del
NM_147161.3:c.*459_*475del (ACOT11)	NP_671517.1:n.*459_*475del
NM_176782.2:c.1442_1458del (FAM151A)	NP_788954.2:p.Pro481GlnfsTer?
XM_006710599.2:c.1364_1380del (FAM151A)	XP_006710662.1:p.Pro455GlnfsTer?
XM_006710599.3:c.1364_1380del (FAM151A)	XP_006710662.1:p.Pro455GlnfsTer?
NM_176782.3:c.1442_1458del (FAM151A) MANE Select	NP_788954.2:p.Pro481GlnfsTer?
NM_015547.4:c.1629+1503_1629+1519del (ACOT11)	NP_056362.1:n.1629+1503_1629+1519del
NM_147161.4:c.*459_*475del (ACOT11) MANE Select	NP_671517.1:n.*459_*475del