Canonical Allele Identifier: CA2658325584

Gene: MPV17

Linked Data

• gnomAD v4: 2-27310099-CTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27310102_27310105del , CM000664.2:g.27310102_27310105del	GRCh38
NC_000002.11:g.27532970_27532973del , CM000664.1:g.27532970_27532973del	GRCh37
NC_000002.10:g.27386474_27386477del	NCBI36
NG_008075.1:g.17461_17464del
NG_033055.1:g.3160_3163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.462-122_462-119del MANE Select	ENSP00000369383.1:n.462-122_462-119del
ENST00000233545.6:c.462-122_462-119del	ENSP00000233545.2:n.462-122_462-119del
ENST00000357186.10:c.294-122_294-119del	ENSP00000349713.6:n.294-122_294-119del
ENST00000380044.5:c.462-122_462-119del	ENSP00000369383.1:n.462-122_462-119del
ENST00000402310.5:c.409-122_409-119del	ENSP00000383955.1:n.409-122_409-119del
ENST00000402722.5:c.*41-122_*41-119del	ENSP00000386000.1:n.*41-122_*41-119del
ENST00000405076.5:c.273-122_273-119del	ENSP00000385175.1:n.273-122_273-119del
ENST00000405983.5:c.507-122_507-119del	ENSP00000384586.1:n.507-122_507-119del
ENST00000415514.5:c.*263-122_*263-119del	ENSP00000388043.1:n.*263-122_*263-119del
ENST00000426513.6:c.*127-122_*127-119del	ENSP00000403824.2:n.*127-122_*127-119del
ENST00000430991.5:c.296-122_296-119del
ENST00000620797.4:n.135-122_135-119del
ENST00000621183.4:n.765-122_765-119del
NM_002437.4:c.462-122_462-119del	NP_002428.1:n.462-122_462-119del
XM_005264326.2:c.462-122_462-119del	XP_005264383.1:n.462-122_462-119del
XM_005264327.2:c.303-122_303-119del	XP_005264384.1:n.303-122_303-119del
XM_006712021.2:c.414-122_414-119del	XP_006712084.1:n.414-122_414-119del
XM_005264326.4:c.462-122_462-119del	XP_005264383.1:n.462-122_462-119del
XM_006712021.3:c.414-122_414-119del	XP_006712084.1:n.414-122_414-119del
XM_017004150.1:c.444-122_444-119del	XP_016859639.1:n.444-122_444-119del
XM_017004151.1:c.414-122_414-119del	XP_016859640.1:n.414-122_414-119del
XM_017004152.1:c.303-122_303-119del	XP_016859641.1:n.303-122_303-119del
XM_024452913.1:c.414-122_414-119del	XP_024308681.1:n.414-122_414-119del
NM_002437.5:c.462-122_462-119del MANE Select	NP_002428.1:n.462-122_462-119del