Canonical Allele Identifier: CA2580066271

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2170585
• ClinVar RCV Id: RCV003088641

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27310001_27310002delinsTG , CM000664.2:g.27310001_27310002delinsTG	GRCh38
NC_000002.11:g.27532869_27532870delinsTG , CM000664.1:g.27532869_27532870delinsTG	GRCh37
NC_000002.10:g.27386373_27386374delinsTG	NCBI36
NG_008075.1:g.17562_17563delinsCA
NG_033055.1:g.3261_3262delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.462-21_462-20delinsCA MANE Select	ENSP00000369383.1:n.462-21_462-20delinsCA
ENST00000233545.6:c.462-21_462-20delinsCA	ENSP00000233545.2:n.462-21_462-20delinsCA
ENST00000357186.10:c.294-21_294-20delinsCA	ENSP00000349713.6:n.294-21_294-20delinsCA
ENST00000380044.5:c.462-21_462-20delinsCA	ENSP00000369383.1:n.462-21_462-20delinsCA
ENST00000402310.5:c.409-21_409-20delinsCA	ENSP00000383955.1:n.409-21_409-20delinsCA
ENST00000402722.5:c.*41-21_*41-20delinsCA	ENSP00000386000.1:n.*41-21_*41-20delinsCA
ENST00000405076.5:c.273-21_273-20delinsCA	ENSP00000385175.1:n.273-21_273-20delinsCA
ENST00000405983.5:c.507-21_507-20delinsCA	ENSP00000384586.1:n.507-21_507-20delinsCA
ENST00000415514.5:c.*263-21_*263-20delinsCA	ENSP00000388043.1:n.*263-21_*263-20delinsCA
ENST00000426513.6:c.*127-21_*127-20delinsCA	ENSP00000403824.2:n.*127-21_*127-20delinsCA
ENST00000430991.5:c.296-21_296-20delinsCA
ENST00000620797.4:n.135-21_135-20delinsCA
ENST00000621183.4:n.765-21_765-20delinsCA
NM_002437.4:c.462-21_462-20delinsCA	NP_002428.1:n.462-21_462-20delinsCA
XM_005264326.2:c.462-21_462-20delinsCA	XP_005264383.1:n.462-21_462-20delinsCA
XM_005264327.2:c.303-21_303-20delinsCA	XP_005264384.1:n.303-21_303-20delinsCA
XM_006712021.2:c.414-21_414-20delinsCA	XP_006712084.1:n.414-21_414-20delinsCA
XM_005264326.4:c.462-21_462-20delinsCA	XP_005264383.1:n.462-21_462-20delinsCA
XM_006712021.3:c.414-21_414-20delinsCA	XP_006712084.1:n.414-21_414-20delinsCA
XM_017004150.1:c.444-21_444-20delinsCA	XP_016859639.1:n.444-21_444-20delinsCA
XM_017004151.1:c.414-21_414-20delinsCA	XP_016859640.1:n.414-21_414-20delinsCA
XM_017004152.1:c.303-21_303-20delinsCA	XP_016859641.1:n.303-21_303-20delinsCA
XM_024452913.1:c.414-21_414-20delinsCA	XP_024308681.1:n.414-21_414-20delinsCA
NM_002437.5:c.462-21_462-20delinsCA MANE Select	NP_002428.1:n.462-21_462-20delinsCA