Canonical Allele Identifier: CA2645794459

Gene: FAM151A ACOT11

Linked Data

• gnomAD v4: 1-54609320-C-CCACCCCATCTATTTTCTCCAGAGCAGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609320_54609321insCACCCCATCTATTTTCTCCAGAGCAGGCT , CM000663.2:g.54609320_54609321insCACCCCATCTATTTTCTCCAGAGCAGGCT	GRCh38
NC_000001.10:g.55074993_55074994insCACCCCATCTATTTTCTCCAGAGCAGGCT , CM000663.1:g.55074993_55074994insCACCCCATCTATTTTCTCCAGAGCAGGCT	GRCh37
NC_000001.9:g.54847581_54847582insCACCCCATCTATTTTCTCCAGAGCAGGCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1705_1706insAGCCTGCTCTGGAGAAAATAGATGGGGTG (FAM151A) MANE Select	ENSP00000306888.2:p.Arg569LysfsTer?
ENST00000343744.7:c.*208_*209insCACCCCATCTATTTTCTCCAGAGCAGGCT (ACOT11) MANE Select	ENSP00000340260.2:n.*208_*209insCACCCCATCTATTTTCTCCAGAGCAGGCT...
ENST00000302250.6:c.1705_1706insAGCCTGCTCTGGAGAAAATAGATGGGGTG (FAM151A)	ENSP00000306888.2:p.Arg569LysfsTer?
ENST00000343744.6:c.*208_*209insCACCCCATCTATTTTCTCCAGAGCAGGCT (ACOT11)	ENSP00000340260.2:n.*208_*209insCACCCCATCTATTTTCTCCAGAGCAGGCT...
ENST00000371304.2:c.1144_1145insAGCCTGCTCTGGAGAAAATAGATGGGGTG (FAM151A)	ENSP00000360353.2:p.Arg382LysfsTer?
ENST00000371316.3:c.1629+1252_1629+1253insCACCCCATCTATTTTCTCCAGAGCAGGCT (ACOT11)	ENSP00000360366.3:n.1629+1252_1629+1253insCACCCCATCTATTTTCTCC...
ENST00000481208.5:n.2071_2072insCACCCCATCTATTTTCTCCAGAGCAGGCT (ACOT11)
NM_015547.3:c.1629+1252_1629+1253insCACCCCATCTATTTTCTCCAGAGCAGGCT (ACOT11)	NP_056362.1:n.1629+1252_1629+1253insCACCCCATCTATTTTCTCCAGAGCA...
NM_147161.3:c.*208_*209insCACCCCATCTATTTTCTCCAGAGCAGGCT (ACOT11)	NP_671517.1:n.*208_*209insCACCCCATCTATTTTCTCCAGAGCAGGCT
NM_176782.2:c.1705_1706insAGCCTGCTCTGGAGAAAATAGATGGGGTG (FAM151A)	NP_788954.2:p.Arg569LysfsTer?
XM_006710599.2:c.1627_1628insAGCCTGCTCTGGAGAAAATAGATGGGGTG (FAM151A)	XP_006710662.1:p.Arg543LysfsTer?
XM_006710599.3:c.1627_1628insAGCCTGCTCTGGAGAAAATAGATGGGGTG (FAM151A)	XP_006710662.1:p.Arg543LysfsTer?
NM_176782.3:c.1705_1706insAGCCTGCTCTGGAGAAAATAGATGGGGTG (FAM151A) MANE Select	NP_788954.2:p.Arg569LysfsTer?
NM_015547.4:c.1629+1252_1629+1253insCACCCCATCTATTTTCTCCAGAGCAGGCT (ACOT11)	NP_056362.1:n.1629+1252_1629+1253insCACCCCATCTATTTTCTCCAGAGCA...
NM_147161.4:c.*208_*209insCACCCCATCTATTTTCTCCAGAGCAGGCT (ACOT11) MANE Select	NP_671517.1:n.*208_*209insCACCCCATCTATTTTCTCCAGAGCAGGCT