Canonical Allele Identifier: CA2574378788
Gene: FAM151A HGNC NCBI
ACOT11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54609705_54609706del , CM000663.2:g.54609705_54609706del GRCh38
NC_000001.10:g.55075378_55075379del , CM000663.1:g.55075378_55075379del GRCh37
NC_000001.9:g.54847966_54847967del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302250.7:c.1324_1325del (FAM151A) MANE Select ENSP00000306888.2:p.Trp442GlyfsTer27
ENST00000343744.7:c.*593_*594del (ACOT11) MANE Select ENSP00000340260.2:n.*593_*594del
ENST00000302250.6:c.1324_1325del (FAM151A) ENSP00000306888.2:p.Trp442GlyfsTer27
ENST00000343744.6:c.*593_*594del (ACOT11) ENSP00000340260.2:n.*593_*594del
ENST00000371304.2:c.918-155_918-154del (FAM151A) ENSP00000360353.2:n.918-155_918-154del
ENST00000371316.3:c.1629+1637_1629+1638del (ACOT11) ENSP00000360366.3:n.1629+1637_1629+1638del
ENST00000481208.5:n.2456_2457del (ACOT11)
NM_015547.3:c.1629+1637_1629+1638del (ACOT11) NP_056362.1:n.1629+1637_1629+1638del
NM_147161.3:c.*593_*594del (ACOT11) NP_671517.1:n.*593_*594del
NM_176782.2:c.1324_1325del (FAM151A) NP_788954.2:p.Trp442GlyfsTer27
XM_006710599.2:c.1246_1247del (FAM151A) XP_006710662.1:p.Trp416GlyfsTer27
XM_006710599.3:c.1246_1247del (FAM151A) XP_006710662.1:p.Trp416GlyfsTer27
NM_176782.3:c.1324_1325del (FAM151A) MANE Select NP_788954.2:p.Trp442GlyfsTer27
NM_015547.4:c.1629+1637_1629+1638del (ACOT11) NP_056362.1:n.1629+1637_1629+1638del
NM_147161.4:c.*593_*594del (ACOT11) MANE Select NP_671517.1:n.*593_*594del