Canonical Allele Identifier: CA2645794457

Gene: FAM151A ACOT11

Linked Data

• gnomAD v4: 1-54609302-T-TGGTAGCCCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609310_54609320dup , CM000663.2:g.54609310_54609320dup	GRCh38
NC_000001.10:g.55074983_55074993dup , CM000663.1:g.55074983_55074993dup	GRCh37
NC_000001.9:g.54847571_54847581dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1713_1723dup (FAM151A) MANE Select	ENSP00000306888.2:p.His575ProfsTer?
ENST00000343744.7:c.*198_*208dup (ACOT11) MANE Select	ENSP00000340260.2:n.*198_*208dup
ENST00000302250.6:c.1713_1723dup (FAM151A)	ENSP00000306888.2:p.His575ProfsTer?
ENST00000343744.6:c.*198_*208dup (ACOT11)	ENSP00000340260.2:n.*198_*208dup
ENST00000371304.2:c.1152_1162dup (FAM151A)	ENSP00000360353.2:p.His388ProfsTer?
ENST00000371316.3:c.1629+1242_1629+1252dup (ACOT11)	ENSP00000360366.3:n.1629+1242_1629+1252dup
ENST00000481208.5:n.2061_2071dup (ACOT11)
NM_015547.3:c.1629+1242_1629+1252dup (ACOT11)	NP_056362.1:n.1629+1242_1629+1252dup
NM_147161.3:c.*198_*208dup (ACOT11)	NP_671517.1:n.*198_*208dup
NM_176782.2:c.1713_1723dup (FAM151A)	NP_788954.2:p.His575ProfsTer?
XM_006710599.2:c.1635_1645dup (FAM151A)	XP_006710662.1:p.His549ProfsTer?
XM_006710599.3:c.1635_1645dup (FAM151A)	XP_006710662.1:p.His549ProfsTer?
NM_176782.3:c.1713_1723dup (FAM151A) MANE Select	NP_788954.2:p.His575ProfsTer?
NM_015547.4:c.1629+1242_1629+1252dup (ACOT11)	NP_056362.1:n.1629+1242_1629+1252dup
NM_147161.4:c.*198_*208dup (ACOT11) MANE Select	NP_671517.1:n.*198_*208dup