Canonical Allele Identifier: CA866910

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs776664272
• ExAC: 1:55075280 G / GTGGGGGAAGACC
• gnomAD v2: 1-55075280-G-GTGGGGGAAGACC
• gnomAD v4: 1-54609607-G-GTGGGGGAAGACC
• MyVariant Identifiers: chr1:g.55075280_55075281insTGGGGGAAGACC (hg19) ; chr1:g.54609607_54609608insTGGGGGAAGACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609609_54609620dup , CM000663.2:g.54609609_54609620dup	GRCh38
NC_000001.10:g.55075282_55075293dup , CM000663.1:g.55075282_55075293dup	GRCh37
NC_000001.9:g.54847870_54847881dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1407_1418dup (FAM151A) MANE Select	ENSP00000306888.2:p.Pro472_His473insGlnValPhePro
ENST00000343744.7:c.*497_*508dup (ACOT11) MANE Select	ENSP00000340260.2:n.*497_*508dup
ENST00000302250.6:c.1407_1418dup (FAM151A)	ENSP00000306888.2:p.Pro472_His473insGlnValPhePro
ENST00000343744.6:c.*497_*508dup (ACOT11)	ENSP00000340260.2:n.*497_*508dup
ENST00000371304.2:c.918-72_918-61dup (FAM151A)	ENSP00000360353.2:n.918-72_918-61dup
ENST00000371316.3:c.1629+1541_1629+1552dup (ACOT11)	ENSP00000360366.3:n.1629+1541_1629+1552dup
ENST00000481208.5:n.2360_2371dup (ACOT11)
NM_015547.3:c.1629+1541_1629+1552dup (ACOT11)	NP_056362.1:n.1629+1541_1629+1552dup
NM_147161.3:c.*497_*508dup (ACOT11)	NP_671517.1:n.*497_*508dup
NM_176782.2:c.1407_1418dup (FAM151A)	NP_788954.2:p.Pro472_His473insGlnValPhePro
XM_006710599.2:c.1329_1340dup (FAM151A)	XP_006710662.1:p.Pro446_His447insGlnValPhePro
XM_006710599.3:c.1329_1340dup (FAM151A)	XP_006710662.1:p.Pro446_His447insGlnValPhePro
NM_176782.3:c.1407_1418dup (FAM151A) MANE Select	NP_788954.2:p.Pro472_His473insGlnValPhePro
NM_015547.4:c.1629+1541_1629+1552dup (ACOT11)	NP_056362.1:n.1629+1541_1629+1552dup
NM_147161.4:c.*497_*508dup (ACOT11) MANE Select	NP_671517.1:n.*497_*508dup