Canonical Allele Identifier: CA523274616

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1173360443
• gnomAD v2: 1-55075342-AAAAACTCCCGTGGG-A
• gnomAD v3: 1-54609669-AAAAACTCCCGTGGG-A
• gnomAD v4: 1-54609669-AAAAACTCCCGTGGG-A
• MyVariant Identifiers: chr1:g.55075343_55075356del (hg19) ; chr1:g.54609670_54609683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609671_54609684del , CM000663.2:g.54609671_54609684del	GRCh38
NC_000001.10:g.55075344_55075357del , CM000663.1:g.55075344_55075357del	GRCh37
NC_000001.9:g.54847932_54847945del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1343_1356del (FAM151A) MANE Select	ENSP00000306888.2:p.Ser448PhefsTer17
ENST00000343744.7:c.*559_*572del (ACOT11) MANE Select	ENSP00000340260.2:n.*559_*572del
ENST00000302250.6:c.1343_1356del (FAM151A)	ENSP00000306888.2:p.Ser448PhefsTer17
ENST00000343744.6:c.*559_*572del (ACOT11)	ENSP00000340260.2:n.*559_*572del
ENST00000371304.2:c.918-136_918-123del (FAM151A)	ENSP00000360353.2:n.918-136_918-123del
ENST00000371316.3:c.1629+1603_1629+1616del (ACOT11)	ENSP00000360366.3:n.1629+1603_1629+1616del
ENST00000481208.5:n.2422_2435del (ACOT11)
NM_015547.3:c.1629+1603_1629+1616del (ACOT11)	NP_056362.1:n.1629+1603_1629+1616del
NM_147161.3:c.*559_*572del (ACOT11)	NP_671517.1:n.*559_*572del
NM_176782.2:c.1343_1356del (FAM151A)	NP_788954.2:p.Ser448PhefsTer17
XM_006710599.2:c.1265_1278del (FAM151A)	XP_006710662.1:p.Ser422PhefsTer17
XM_006710599.3:c.1265_1278del (FAM151A)	XP_006710662.1:p.Ser422PhefsTer17
NM_176782.3:c.1343_1356del (FAM151A) MANE Select	NP_788954.2:p.Ser448PhefsTer17
NM_015547.4:c.1629+1603_1629+1616del (ACOT11)	NP_056362.1:n.1629+1603_1629+1616del
NM_147161.4:c.*559_*572del (ACOT11) MANE Select	NP_671517.1:n.*559_*572del