Canonical Allele Identifier: CA767376797

Gene: MPV17

Linked Data

• dbSNP Id: rs1274810291
• gnomAD v4: 2-27310133-TCTC-T
• MyVariant Identifiers: chr2:g.27533002_27533004del (hg19) ; chr2:g.27310134_27310136del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27310137_27310139del , CM000664.2:g.27310137_27310139del	GRCh38
NC_000002.11:g.27533005_27533007del , CM000664.1:g.27533005_27533007del	GRCh37
NC_000002.10:g.27386509_27386511del	NCBI36
NG_008075.1:g.17428_17430del
NG_033055.1:g.3127_3129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.462-155_462-153del MANE Select	ENSP00000369383.1:n.462-155_462-153del
ENST00000233545.6:c.462-155_462-153del	ENSP00000233545.2:n.462-155_462-153del
ENST00000357186.10:c.294-155_294-153del	ENSP00000349713.6:n.294-155_294-153del
ENST00000380044.5:c.462-155_462-153del	ENSP00000369383.1:n.462-155_462-153del
ENST00000402310.5:c.409-155_409-153del	ENSP00000383955.1:n.409-155_409-153del
ENST00000402722.5:c.*41-155_*41-153del	ENSP00000386000.1:n.*41-155_*41-153del
ENST00000405076.5:c.273-155_273-153del	ENSP00000385175.1:n.273-155_273-153del
ENST00000405983.5:c.507-155_507-153del	ENSP00000384586.1:n.507-155_507-153del
ENST00000415514.5:c.*263-155_*263-153del	ENSP00000388043.1:n.*263-155_*263-153del
ENST00000426513.6:c.*127-155_*127-153del	ENSP00000403824.2:n.*127-155_*127-153del
ENST00000430991.5:c.296-155_296-153del
ENST00000620797.4:n.135-155_135-153del
ENST00000621183.4:n.765-155_765-153del
NM_002437.4:c.462-155_462-153del	NP_002428.1:n.462-155_462-153del
XM_005264326.2:c.462-155_462-153del	XP_005264383.1:n.462-155_462-153del
XM_005264327.2:c.303-155_303-153del	XP_005264384.1:n.303-155_303-153del
XM_006712021.2:c.414-155_414-153del	XP_006712084.1:n.414-155_414-153del
XM_005264326.4:c.462-155_462-153del	XP_005264383.1:n.462-155_462-153del
XM_006712021.3:c.414-155_414-153del	XP_006712084.1:n.414-155_414-153del
XM_017004150.1:c.444-155_444-153del	XP_016859639.1:n.444-155_444-153del
XM_017004151.1:c.414-155_414-153del	XP_016859640.1:n.414-155_414-153del
XM_017004152.1:c.303-155_303-153del	XP_016859641.1:n.303-155_303-153del
XM_024452913.1:c.414-155_414-153del	XP_024308681.1:n.414-155_414-153del
NM_002437.5:c.462-155_462-153del MANE Select	NP_002428.1:n.462-155_462-153del