Canonical Allele Identifier: CA2576929078

Gene: MPV17

Linked Data

• gnomAD v4: 2-27309917-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309919del , CM000664.2:g.27309919del	GRCh38
NC_000002.11:g.27532787del , CM000664.1:g.27532787del	GRCh37
NC_000002.10:g.27386291del	NCBI36
NG_008075.1:g.17646del
NG_033055.1:g.3345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.525del MANE Select	ENSP00000369383.1:p.Leu176SerfsTer?
ENST00000233545.6:c.525del	ENSP00000233545.2:p.Leu176SerfsTer?
ENST00000357186.10:c.357del	ENSP00000349713.6:p.Leu120SerfsTer?
ENST00000380044.5:c.525del	ENSP00000369383.1:p.Leu176SerfsTer?
ENST00000402310.5:c.472del	ENSP00000383955.1:p.Ala158LeufsTer2
ENST00000402722.5:c.*104del	ENSP00000386000.1:n.*104del
ENST00000405076.5:c.336del	ENSP00000385175.1:p.Leu113SerfsTer?
ENST00000405983.5:c.570del	ENSP00000384586.1:p.Leu191SerfsTer?
ENST00000415514.5:c.*326del	ENSP00000388043.1:n.*326del
ENST00000426513.6:c.*190del	ENSP00000403824.2:n.*190del
ENST00000430991.5:c.359del
ENST00000620797.4:n.198del
ENST00000621183.4:n.828del
NM_002437.4:c.525del	NP_002428.1:p.Leu176SerfsTer?
XM_005264326.2:c.525del	XP_005264383.1:p.Leu176SerfsTer?
XM_005264327.2:c.366del	XP_005264384.1:p.Leu123SerfsTer?
XM_006712021.2:c.477del	XP_006712084.1:p.Leu160SerfsTer?
XM_005264326.4:c.525del	XP_005264383.1:p.Leu176SerfsTer?
XM_006712021.3:c.477del	XP_006712084.1:p.Leu160SerfsTer?
XM_017004150.1:c.507del	XP_016859639.1:p.Leu170SerfsTer?
XM_017004151.1:c.477del	XP_016859640.1:p.Leu160SerfsTer?
XM_017004152.1:c.366del	XP_016859641.1:p.Leu123SerfsTer?
XM_024452913.1:c.477del	XP_024308681.1:p.Leu160SerfsTer?
NM_002437.5:c.525del MANE Select	NP_002428.1:p.Leu176SerfsTer?