Canonical Allele Identifier: CA2743674402
Gene: FAM151A HGNC NCBI
ACOT11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54609406_54609418del , CM000663.2:g.54609406_54609418del GRCh38
NC_000001.10:g.55075079_55075091del , CM000663.1:g.55075079_55075091del GRCh37
NC_000001.9:g.54847667_54847679del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302250.7:c.1609_1621del (FAM151A) MANE Select ENSP00000306888.2:p.Val537ThrfsTer11
ENST00000343744.7:c.*294_*306del (ACOT11) MANE Select ENSP00000340260.2:n.*294_*306del
ENST00000302250.6:c.1609_1621del (FAM151A) ENSP00000306888.2:p.Val537ThrfsTer11
ENST00000343744.6:c.*294_*306del (ACOT11) ENSP00000340260.2:n.*294_*306del
ENST00000371304.2:c.1048_1060del (FAM151A) ENSP00000360353.2:p.Val350ThrfsTer11
ENST00000371316.3:c.1629+1338_1629+1350del (ACOT11) ENSP00000360366.3:n.1629+1338_1629+1350del
ENST00000481208.5:n.2157_2169del (ACOT11)
NM_015547.3:c.1629+1338_1629+1350del (ACOT11) NP_056362.1:n.1629+1338_1629+1350del
NM_147161.3:c.*294_*306del (ACOT11) NP_671517.1:n.*294_*306del
NM_176782.2:c.1609_1621del (FAM151A) NP_788954.2:p.Val537ThrfsTer11
XM_006710599.2:c.1531_1543del (FAM151A) XP_006710662.1:p.Val511ThrfsTer11
XM_006710599.3:c.1531_1543del (FAM151A) XP_006710662.1:p.Val511ThrfsTer11
NM_176782.3:c.1609_1621del (FAM151A) MANE Select NP_788954.2:p.Val537ThrfsTer11
NM_015547.4:c.1629+1338_1629+1350del (ACOT11) NP_056362.1:n.1629+1338_1629+1350del
NM_147161.4:c.*294_*306del (ACOT11) MANE Select NP_671517.1:n.*294_*306del