Canonical Allele Identifier: CA309347072

Gene: MBOAT7

Linked Data

• ClinVar Variation Id: 268113
• ClinVar RCV Id: RCV000258818
• dbSNP Id: rs886041059
• MyVariant Identifiers: chr19:g.54183591del (hg38)
• PubMed: PMID:27616480

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54183594del , CM000681.2:g.54183594del	GRCh38
NC_000019.8:g.59379289del	NCBI36
NG_033045.2:g.11285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245615.6:c.423del MANE Select	ENSP00000245615.1:p.Leu142CysfsTer8
ENST00000245615.5:c.423del	ENSP00000245615.1:p.Leu142CysfsTer8
ENST00000338624.10:c.204del	ENSP00000344377.5:p.Leu69CysfsTer8
ENST00000391754.5:c.423del	ENSP00000375634.1:p.Leu142CysfsTer8
ENST00000414665.5:c.423del	ENSP00000388250.1:p.Leu142CysfsTer8
ENST00000431666.6:c.204del	ENSP00000410503.2:p.Leu69CysfsTer8
ENST00000437868.5:c.*83del	ENSP00000404915.1:n.*83del
ENST00000449249.5:c.279del	ENSP00000406794.1:p.Leu94CysfsTer8
ENST00000453320.1:c.423del	ENSP00000410320.1:p.Leu142CysfsTer8
ENST00000464098.5:n.413del
ENST00000474910.5:n.559del
ENST00000495279.2:c.44del
NM_001146056.2:c.204del	NP_001139528.1:p.Leu69CysfsTer8
NM_001146082.2:c.423del	NP_001139554.1:p.Leu142CysfsTer8
NM_001146083.2:c.204del	NP_001139555.1:p.Leu69CysfsTer8
NM_024298.4:c.423del	NP_077274.3:p.Leu142CysfsTer8
XM_011527299.1:c.423del	XP_011525601.1:p.Leu142CysfsTer8
XM_011527300.1:c.423del	XP_011525602.1:p.Leu142CysfsTer8
XM_011527299.3:c.423del	XP_011525601.1:p.Leu142CysfsTer8
XM_011527300.2:c.423del	XP_011525602.1:p.Leu142CysfsTer8
XM_017027296.2:c.423del	XP_016882785.1:p.Leu142CysfsTer8
NM_024298.5:c.423del MANE Select	NP_077274.3:p.Leu142CysfsTer8
NM_001146056.3:c.204del	NP_001139528.1:p.Leu69CysfsTer8
NM_001146082.3:c.423del	NP_001139554.1:p.Leu142CysfsTer8
NM_001146083.3:c.204del	NP_001139555.1:p.Leu69CysfsTer8