Canonical Allele Identifier: CA2573156731

Gene: MBOAT7

Linked Data

• ClinVar Variation Id: 1675309
• ClinVar RCV Id: RCV002211038
• dbSNP Id: rs2146977904

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54178813_54178827del , CM000681.2:g.54178813_54178827del	GRCh38
NC_000019.8:g.59374342_59374356del	NCBI36
NG_033045.2:g.16051_16065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245615.6:c.971_985del MANE Select	ENSP00000245615.1:p.Val324_Leu328del
ENST00000245615.5:c.971_985del	ENSP00000245615.1:p.Val324_Leu328del
ENST00000338624.10:c.752_766del	ENSP00000344377.5:p.Val251_Leu255del
ENST00000391754.5:c.971_985del	ENSP00000375634.1:p.Val324_Leu328del
ENST00000431666.6:c.752_766del	ENSP00000410503.2:p.Val251_Leu255del
ENST00000437868.5:c.*631_*645del	ENSP00000404915.1:n.*631_*645del
ENST00000449249.5:c.350-4394_350-4380del	ENSP00000406794.1:n.350-4394_350-4380del
ENST00000494142.1:n.1966_1980del
NM_001146056.2:c.752_766del	NP_001139528.1:p.Val251_Leu255del
NM_001146082.2:c.971_985del	NP_001139554.1:p.Val324_Leu328del
NM_001146083.2:c.752_766del	NP_001139555.1:p.Val251_Leu255del
NM_024298.4:c.971_985del	NP_077274.3:p.Val324_Leu328del
XM_011527299.1:c.971_985del	XP_011525601.1:p.Val324_Leu328del
XM_011527300.1:c.971_985del	XP_011525602.1:p.Val324_Leu328del
XM_011527299.3:c.971_985del	XP_011525601.1:p.Val324_Leu328del
XM_011527300.2:c.971_985del	XP_011525602.1:p.Val324_Leu328del
XM_017027296.2:c.971_985del	XP_016882785.1:p.Val324_Leu328del
NM_024298.5:c.971_985del MANE Select	NP_077274.3:p.Val324_Leu328del
NM_001146056.3:c.752_766del	NP_001139528.1:p.Val251_Leu255del
NM_001146082.3:c.971_985del	NP_001139554.1:p.Val324_Leu328del
NM_001146083.3:c.752_766del	NP_001139555.1:p.Val251_Leu255del