Canonical Allele Identifier: CA2645794460

Gene: FAM151A ACOT11

Linked Data

• gnomAD v4: 1-54609323-T-TAGCTCTTTATACATGGTCTTCCTGCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609325_54609326insCTCTTTATACATGGTCTTCCTGCTGAAG , CM000663.2:g.54609325_54609326insCTCTTTATACATGGTCTTCCTGCTGAAG	GRCh38
NC_000001.10:g.55074998_55074999insCTCTTTATACATGGTCTTCCTGCTGAAG , CM000663.1:g.55074998_55074999insCTCTTTATACATGGTCTTCCTGCTGAAG	GRCh37
NC_000001.9:g.54847586_54847587insCTCTTTATACATGGTCTTCCTGCTGAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1702_1703insTCAGCAGGAAGACCATGTATAAAGAGCT (FAM151A) MANE Select	ENSP00000306888.2:p.Tyr568PhefsTer26
ENST00000343744.7:c.*213_*214insCTCTTTATACATGGTCTTCCTGCTGAAG (ACOT11) MANE Select	ENSP00000340260.2:n.*213_*214insCTCTTTATACATGGTCTTCCTGCTGAAG
ENST00000302250.6:c.1702_1703insTCAGCAGGAAGACCATGTATAAAGAGCT (FAM151A)	ENSP00000306888.2:p.Tyr568PhefsTer26
ENST00000343744.6:c.*213_*214insCTCTTTATACATGGTCTTCCTGCTGAAG (ACOT11)	ENSP00000340260.2:n.*213_*214insCTCTTTATACATGGTCTTCCTGCTGAAG
ENST00000371304.2:c.1141_1142insTCAGCAGGAAGACCATGTATAAAGAGCT (FAM151A)	ENSP00000360353.2:p.Tyr381PhefsTer26
ENST00000371316.3:c.1629+1257_1629+1258insCTCTTTATACATGGTCTTCCTGCTGAAG (ACOT11)	ENSP00000360366.3:n.1629+1257_1629+1258insCTCTTTATACATGGTCTTC...
ENST00000481208.5:n.2076_2077insCTCTTTATACATGGTCTTCCTGCTGAAG (ACOT11)
NM_015547.3:c.1629+1257_1629+1258insCTCTTTATACATGGTCTTCCTGCTGAAG (ACOT11)	NP_056362.1:n.1629+1257_1629+1258insCTCTTTATACATGGTCTTCCTGCTG...
NM_147161.3:c.*213_*214insCTCTTTATACATGGTCTTCCTGCTGAAG (ACOT11)	NP_671517.1:n.*213_*214insCTCTTTATACATGGTCTTCCTGCTGAAG
NM_176782.2:c.1702_1703insTCAGCAGGAAGACCATGTATAAAGAGCT (FAM151A)	NP_788954.2:p.Tyr568PhefsTer26
XM_006710599.2:c.1624_1625insTCAGCAGGAAGACCATGTATAAAGAGCT (FAM151A)	XP_006710662.1:p.Tyr542PhefsTer26
XM_006710599.3:c.1624_1625insTCAGCAGGAAGACCATGTATAAAGAGCT (FAM151A)	XP_006710662.1:p.Tyr542PhefsTer26
NM_176782.3:c.1702_1703insTCAGCAGGAAGACCATGTATAAAGAGCT (FAM151A) MANE Select	NP_788954.2:p.Tyr568PhefsTer26
NM_015547.4:c.1629+1257_1629+1258insCTCTTTATACATGGTCTTCCTGCTGAAG (ACOT11)	NP_056362.1:n.1629+1257_1629+1258insCTCTTTATACATGGTCTTCCTGCTG...
NM_147161.4:c.*213_*214insCTCTTTATACATGGTCTTCCTGCTGAAG (ACOT11) MANE Select	NP_671517.1:n.*213_*214insCTCTTTATACATGGTCTTCCTGCTGAAG