Canonical Allele Identifier: CA2645794470

Gene: FAM151A ACOT11

Linked Data

• gnomAD v4: 1-54609399-G-GCATA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609399_54609400insCATA , CM000663.2:g.54609399_54609400insCATA	GRCh38
NC_000001.10:g.55075072_55075073insCATA , CM000663.1:g.55075072_55075073insCATA	GRCh37
NC_000001.9:g.54847660_54847661insCATA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1626_1627insTATG (FAM151A) MANE Select	ENSP00000306888.2:p.Pro543TyrfsTer18
ENST00000343744.7:c.*287_*288insCATA (ACOT11) MANE Select	ENSP00000340260.2:n.*287_*288insCATA
ENST00000302250.6:c.1626_1627insTATG (FAM151A)	ENSP00000306888.2:p.Pro543TyrfsTer18
ENST00000343744.6:c.*287_*288insCATA (ACOT11)	ENSP00000340260.2:n.*287_*288insCATA
ENST00000371304.2:c.1065_1066insTATG (FAM151A)	ENSP00000360353.2:p.Pro356TyrfsTer18
ENST00000371316.3:c.1629+1331_1629+1332insCATA (ACOT11)	ENSP00000360366.3:n.1629+1331_1629+1332insCATA
ENST00000481208.5:n.2150_2151insCATA (ACOT11)
NM_015547.3:c.1629+1331_1629+1332insCATA (ACOT11)	NP_056362.1:n.1629+1331_1629+1332insCATA
NM_147161.3:c.*287_*288insCATA (ACOT11)	NP_671517.1:n.*287_*288insCATA
NM_176782.2:c.1626_1627insTATG (FAM151A)	NP_788954.2:p.Pro543TyrfsTer18
XM_006710599.2:c.1548_1549insTATG (FAM151A)	XP_006710662.1:p.Pro517TyrfsTer18
XM_006710599.3:c.1548_1549insTATG (FAM151A)	XP_006710662.1:p.Pro517TyrfsTer18
NM_176782.3:c.1626_1627insTATG (FAM151A) MANE Select	NP_788954.2:p.Pro543TyrfsTer18
NM_015547.4:c.1629+1331_1629+1332insCATA (ACOT11)	NP_056362.1:n.1629+1331_1629+1332insCATA
NM_147161.4:c.*287_*288insCATA (ACOT11) MANE Select	NP_671517.1:n.*287_*288insCATA