Canonical Allele Identifier: CA523274613

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1437329871
• gnomAD v2: 1-55075048-CAG-C
• gnomAD v3: 1-54609375-CAG-C
• gnomAD v4: 1-54609375-CAG-C
• MyVariant Identifiers: chr1:g.55075049_55075050del (hg19) ; chr1:g.54609376_54609377del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609378_54609379del , CM000663.2:g.54609378_54609379del	GRCh38
NC_000001.10:g.55075051_55075052del , CM000663.1:g.55075051_55075052del	GRCh37
NC_000001.9:g.54847639_54847640del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1649_1650del (FAM151A) MANE Select	ENSP00000306888.2:p.Ser550CysfsTer9
ENST00000343744.7:c.*266_*267del (ACOT11) MANE Select	ENSP00000340260.2:n.*266_*267del
ENST00000302250.6:c.1649_1650del (FAM151A)	ENSP00000306888.2:p.Ser550CysfsTer9
ENST00000343744.6:c.*266_*267del (ACOT11)	ENSP00000340260.2:n.*266_*267del
ENST00000371304.2:c.1088_1089del (FAM151A)	ENSP00000360353.2:p.Ser363CysfsTer9
ENST00000371316.3:c.1629+1310_1629+1311del (ACOT11)	ENSP00000360366.3:n.1629+1310_1629+1311del
ENST00000481208.5:n.2129_2130del (ACOT11)
NM_015547.3:c.1629+1310_1629+1311del (ACOT11)	NP_056362.1:n.1629+1310_1629+1311del
NM_147161.3:c.*266_*267del (ACOT11)	NP_671517.1:n.*266_*267del
NM_176782.2:c.1649_1650del (FAM151A)	NP_788954.2:p.Ser550CysfsTer9
XM_006710599.2:c.1571_1572del (FAM151A)	XP_006710662.1:p.Ser524CysfsTer9
XM_006710599.3:c.1571_1572del (FAM151A)	XP_006710662.1:p.Ser524CysfsTer9
NM_176782.3:c.1649_1650del (FAM151A) MANE Select	NP_788954.2:p.Ser550CysfsTer9
NM_015547.4:c.1629+1310_1629+1311del (ACOT11)	NP_056362.1:n.1629+1310_1629+1311del
NM_147161.4:c.*266_*267del (ACOT11) MANE Select	NP_671517.1:n.*266_*267del