Canonical Allele Identifier: CA2658328087

Gene: MPV17

Linked Data

• gnomAD v4: 2-27322222-GAAATCCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322226_27322233del , CM000664.2:g.27322226_27322233del	GRCh38
NC_000002.11:g.27545093_27545100del , CM000664.1:g.27545093_27545100del	GRCh37
NC_000002.10:g.27398597_27398604del	NCBI36
NG_008075.1:g.5335_5342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.70+218_70+225del MANE Select	ENSP00000369383.1:n.70+218_70+225del
ENST00000233545.6:c.70+218_70+225del	ENSP00000233545.2:n.70+218_70+225del
ENST00000357186.10:c.18+2203_18+2210del	ENSP00000349713.6:n.18+2203_18+2210del
ENST00000380044.5:c.70+218_70+225del	ENSP00000369383.1:n.70+218_70+225del
ENST00000399052.8:c.70+218_70+225del	ENSP00000382006.4:n.70+218_70+225del
ENST00000402310.5:c.70+218_70+225del	ENSP00000383955.1:n.70+218_70+225del
ENST00000402722.5:c.70+218_70+225del	ENSP00000386000.1:n.70+218_70+225del
ENST00000403262.6:c.70+218_70+225del	ENSP00000385671.1:n.70+218_70+225del
ENST00000405076.5:c.70+218_70+225del	ENSP00000385175.1:n.70+218_70+225del
ENST00000405983.5:c.70+218_70+225del	ENSP00000384586.1:n.70+218_70+225del
ENST00000415514.5:c.70+218_70+225del	ENSP00000388043.1:n.70+218_70+225del
ENST00000426513.6:c.70+218_70+225del	ENSP00000403824.2:n.70+218_70+225del
ENST00000428910.5:c.-133+218_-133+225del	ENSP00000405235.1:n.-133+218_-133+225del
ENST00000486898.1:n.121+218_121+225del
ENST00000494436.1:n.319_326del
ENST00000617583.4:n.96+218_96+225del
ENST00000621183.4:n.126+218_126+225del
ENST00000621470.4:n.121+218_121+225del
ENST00000622003.4:n.86+218_86+225del
NM_002437.4:c.70+218_70+225del	NP_002428.1:n.70+218_70+225del
XM_005264326.2:c.70+218_70+225del	XP_005264383.1:n.70+218_70+225del
XM_005264327.2:c.-55+218_-55+225del	XP_005264384.1:n.-55+218_-55+225del
XM_006712021.2:c.-136+218_-136+225del	XP_006712084.1:n.-136+218_-136+225del
XM_005264326.4:c.70+218_70+225del	XP_005264383.1:n.70+218_70+225del
XM_006712021.3:c.-136+218_-136+225del	XP_006712084.1:n.-136+218_-136+225del
XM_017004150.1:c.-3183+218_-3183+225del	XP_016859639.1:n.-3183+218_-3183+225del
XM_017004151.1:c.-75+218_-75+225del	XP_016859640.1:n.-75+218_-75+225del
XM_017004152.1:c.-212+218_-212+225del	XP_016859641.1:n.-212+218_-212+225del
XM_024452913.1:c.-136+218_-136+225del	XP_024308681.1:n.-136+218_-136+225del
NM_002437.5:c.70+218_70+225del MANE Select	NP_002428.1:n.70+218_70+225del