Canonical Allele Identifier: CA736991893

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1462268987
• gnomAD v3: 1-54609182-GGAGAAAGCCAAA-G
• gnomAD v4: 1-54609182-GGAGAAAGCCAAA-G
• MyVariant Identifiers: chr1:g.55074856_55074867del (hg19) ; chr1:g.54609183_54609194del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609185_54609196del , CM000663.2:g.54609185_54609196del	GRCh38
NC_000001.10:g.55074858_55074869del , CM000663.1:g.55074858_55074869del	GRCh37
NC_000001.9:g.54847446_54847457del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.*74_*85del (FAM151A) MANE Select	ENSP00000306888.2:n.*74_*85del
ENST00000343744.7:c.*73_*84del (ACOT11) MANE Select	ENSP00000340260.2:n.*73_*84del
ENST00000302250.6:c.*74_*85del (FAM151A)	ENSP00000306888.2:n.*74_*85del
ENST00000343744.6:c.*73_*84del (ACOT11)	ENSP00000340260.2:n.*73_*84del
ENST00000371304.2:c.*74_*85del (FAM151A)	ENSP00000360353.2:n.*74_*85del
ENST00000371316.3:c.1629+1117_1629+1128del (ACOT11)	ENSP00000360366.3:n.1629+1117_1629+1128del
ENST00000481208.5:n.1936_1947del (ACOT11)
NM_015547.3:c.1629+1117_1629+1128del (ACOT11)	NP_056362.1:n.1629+1117_1629+1128del
NM_147161.3:c.*73_*84del (ACOT11)	NP_671517.1:n.*73_*84del
NM_176782.2:c.*74_*85del (FAM151A)	NP_788954.2:n.*74_*85del
XM_006710599.3:c.*74_*85del (FAM151A)	XP_006710662.1:n.*74_*85del
NM_176782.3:c.*74_*85del (FAM151A) MANE Select	NP_788954.2:n.*74_*85del
NM_015547.4:c.1629+1117_1629+1128del (ACOT11)	NP_056362.1:n.1629+1117_1629+1128del
NM_147161.4:c.*73_*84del (ACOT11) MANE Select	NP_671517.1:n.*73_*84del