Canonical Allele Identifier: CA916497479

Gene: MPV17

Linked Data

• dbSNP Id: rs1558597032
• gnomAD v3: 2-27310001-CAATGAA-C
• gnomAD v4: 2-27310001-CAATGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27310002_27310007del , CM000664.2:g.27310002_27310007del	GRCh38
NC_000002.11:g.27532870_27532875del , CM000664.1:g.27532870_27532875del	GRCh37
NC_000002.10:g.27386374_27386379del	NCBI36
NG_008075.1:g.17557_17562del
NG_033055.1:g.3256_3261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.462-26_462-21del MANE Select	ENSP00000369383.1:n.462-26_462-21del
ENST00000233545.6:c.462-26_462-21del	ENSP00000233545.2:n.462-26_462-21del
ENST00000357186.10:c.294-26_294-21del	ENSP00000349713.6:n.294-26_294-21del
ENST00000380044.5:c.462-26_462-21del	ENSP00000369383.1:n.462-26_462-21del
ENST00000402310.5:c.409-26_409-21del	ENSP00000383955.1:n.409-26_409-21del
ENST00000402722.5:c.*41-26_*41-21del	ENSP00000386000.1:n.*41-26_*41-21del
ENST00000405076.5:c.273-26_273-21del	ENSP00000385175.1:n.273-26_273-21del
ENST00000405983.5:c.507-26_507-21del	ENSP00000384586.1:n.507-26_507-21del
ENST00000415514.5:c.*263-26_*263-21del	ENSP00000388043.1:n.*263-26_*263-21del
ENST00000426513.6:c.*127-26_*127-21del	ENSP00000403824.2:n.*127-26_*127-21del
ENST00000430991.5:c.296-26_296-21del
ENST00000620797.4:n.135-26_135-21del
ENST00000621183.4:n.765-26_765-21del
NM_002437.4:c.462-26_462-21del	NP_002428.1:n.462-26_462-21del
XM_005264326.2:c.462-26_462-21del	XP_005264383.1:n.462-26_462-21del
XM_005264327.2:c.303-26_303-21del	XP_005264384.1:n.303-26_303-21del
XM_006712021.2:c.414-26_414-21del	XP_006712084.1:n.414-26_414-21del
XM_005264326.4:c.462-26_462-21del	XP_005264383.1:n.462-26_462-21del
XM_006712021.3:c.414-26_414-21del	XP_006712084.1:n.414-26_414-21del
XM_017004150.1:c.444-26_444-21del	XP_016859639.1:n.444-26_444-21del
XM_017004151.1:c.414-26_414-21del	XP_016859640.1:n.414-26_414-21del
XM_017004152.1:c.303-26_303-21del	XP_016859641.1:n.303-26_303-21del
XM_024452913.1:c.414-26_414-21del	XP_024308681.1:n.414-26_414-21del
NM_002437.5:c.462-26_462-21del MANE Select	NP_002428.1:n.462-26_462-21del