Canonical Allele Identifier: CA2576970036

Gene: MPV17

Linked Data

• gnomAD v4: 2-27322549-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322554del , CM000664.2:g.27322554del	GRCh38
NC_000002.11:g.27545421del , CM000664.1:g.27545421del	GRCh37
NC_000002.10:g.27398925del	NCBI36
NG_008075.1:g.5015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-5-28del MANE Select	ENSP00000369383.1:n.-5-28del
ENST00000233545.6:c.-33del	ENSP00000233545.2:n.-33del
ENST00000357186.10:c.18+1883del	ENSP00000349713.6:n.18+1883del
ENST00000380044.5:c.-5-28del	ENSP00000369383.1:n.-5-28del
ENST00000399052.8:c.-5-28del	ENSP00000382006.4:n.-5-28del
ENST00000402310.5:c.-5-28del	ENSP00000383955.1:n.-5-28del
ENST00000402722.5:c.-5-28del	ENSP00000386000.1:n.-5-28del
ENST00000403262.6:c.-5-28del	ENSP00000385671.1:n.-5-28del
ENST00000405076.5:c.-5-28del	ENSP00000385175.1:n.-5-28del
ENST00000405983.5:c.-5-28del	ENSP00000384586.1:n.-5-28del
ENST00000415514.5:c.-5-28del	ENSP00000388043.1:n.-5-28del
ENST00000426513.6:c.-5-28del	ENSP00000403824.2:n.-5-28del
ENST00000428910.5:c.-207-28del	ENSP00000405235.1:n.-207-28del
ENST00000486898.1:n.47-28del
ENST00000494436.1:n.27-28del
ENST00000617583.4:n.22-28del
ENST00000621183.4:n.52-28del
ENST00000621470.4:n.47-28del
ENST00000622003.4:n.12-28del
NM_002437.4:c.-5-28del	NP_002428.1:n.-5-28del
XM_005264326.2:c.-5-28del	XP_005264383.1:n.-5-28del
XM_005264327.2:c.-129-28del	XP_005264384.1:n.-129-28del
XM_006712021.2:c.-210-28del	XP_006712084.1:n.-210-28del
XM_005264326.4:c.-5-28del	XP_005264383.1:n.-5-28del
XM_006712021.3:c.-210-28del	XP_006712084.1:n.-210-28del
XM_017004150.1:c.-3257-28del	XP_016859639.1:n.-3257-28del
XM_024452913.1:c.-210-28del	XP_024308681.1:n.-210-28del
NM_002437.5:c.-5-28del MANE Select	NP_002428.1:n.-5-28del