Canonical Allele Identifier: CA736992763

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1245537589
• gnomAD v3: 1-54609611-GGGAAGACCTCAGCCACAGCTGTAAGCA-G
• gnomAD v4: 1-54609611-GGGAAGACCTCAGCCACAGCTGTAAGCA-G
• MyVariant Identifiers: chr1:g.55075285_55075311del (hg19) ; chr1:g.54609612_54609638del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609613_54609639del , CM000663.2:g.54609613_54609639del	GRCh38
NC_000001.10:g.55075286_55075312del , CM000663.1:g.55075286_55075312del	GRCh37
NC_000001.9:g.54847874_54847900del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1388_1414del (FAM151A) MANE Select	ENSP00000306888.2:p.Leu463_Phe471del
ENST00000343744.7:c.*501_*527del (ACOT11) MANE Select	ENSP00000340260.2:n.*501_*527del
ENST00000302250.6:c.1388_1414del (FAM151A)	ENSP00000306888.2:p.Leu463_Phe471del
ENST00000343744.6:c.*501_*527del (ACOT11)	ENSP00000340260.2:n.*501_*527del
ENST00000371304.2:c.918-91_918-65del (FAM151A)	ENSP00000360353.2:n.918-91_918-65del
ENST00000371316.3:c.1629+1545_1629+1571del (ACOT11)	ENSP00000360366.3:n.1629+1545_1629+1571del
ENST00000481208.5:n.2364_2390del (ACOT11)
NM_015547.3:c.1629+1545_1629+1571del (ACOT11)	NP_056362.1:n.1629+1545_1629+1571del
NM_147161.3:c.*501_*527del (ACOT11)	NP_671517.1:n.*501_*527del
NM_176782.2:c.1388_1414del (FAM151A)	NP_788954.2:p.Leu463_Phe471del
XM_006710599.2:c.1310_1336del (FAM151A)	XP_006710662.1:p.Leu437_Phe445del
XM_006710599.3:c.1310_1336del (FAM151A)	XP_006710662.1:p.Leu437_Phe445del
NM_176782.3:c.1388_1414del (FAM151A) MANE Select	NP_788954.2:p.Leu463_Phe471del
NM_015547.4:c.1629+1545_1629+1571del (ACOT11)	NP_056362.1:n.1629+1545_1629+1571del
NM_147161.4:c.*501_*527del (ACOT11) MANE Select	NP_671517.1:n.*501_*527del