Canonical Allele Identifier: CA1240221341

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322169_27322170delinsTG , CM000664.2:g.27322169_27322170delinsTG	GRCh38
NC_000002.11:g.27545036_27545037delinsTG , CM000664.1:g.27545036_27545037delinsTG	GRCh37
NC_000002.10:g.27398540_27398541delinsTG	NCBI36
NG_008075.1:g.5395_5396delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.70+278_70+279delinsCA MANE Select	ENSP00000369383.1:n.70+278_70+279delinsCA
ENST00000233545.6:c.70+278_70+279delinsCA	ENSP00000233545.2:n.70+278_70+279delinsCA
ENST00000357186.10:c.18+2263_18+2264delinsCA	ENSP00000349713.6:n.18+2263_18+2264delinsCA
ENST00000380044.5:c.70+278_70+279delinsCA	ENSP00000369383.1:n.70+278_70+279delinsCA
ENST00000399052.8:c.70+278_70+279delinsCA	ENSP00000382006.4:n.70+278_70+279delinsCA
ENST00000402310.5:c.70+278_70+279delinsCA	ENSP00000383955.1:n.70+278_70+279delinsCA
ENST00000402722.5:c.70+278_70+279delinsCA	ENSP00000386000.1:n.70+278_70+279delinsCA
ENST00000403262.6:c.70+278_70+279delinsCA	ENSP00000385671.1:n.70+278_70+279delinsCA
ENST00000405076.5:c.70+278_70+279delinsCA	ENSP00000385175.1:n.70+278_70+279delinsCA
ENST00000405983.5:c.70+278_70+279delinsCA	ENSP00000384586.1:n.70+278_70+279delinsCA
ENST00000415514.5:c.70+278_70+279delinsCA	ENSP00000388043.1:n.70+278_70+279delinsCA
ENST00000426513.6:c.70+278_70+279delinsCA	ENSP00000403824.2:n.70+278_70+279delinsCA
ENST00000428910.5:c.-133+278_-133+279delinsCA	ENSP00000405235.1:n.-133+278_-133+279delinsCA
ENST00000486898.1:n.121+278_121+279delinsCA
ENST00000494436.1:n.379_380delinsCA
ENST00000617583.4:n.96+278_96+279delinsCA
ENST00000621183.4:n.126+278_126+279delinsCA
ENST00000621470.4:n.121+278_121+279delinsCA
ENST00000622003.4:n.86+278_86+279delinsCA
NM_002437.4:c.70+278_70+279delinsCA	NP_002428.1:n.70+278_70+279delinsCA
XM_005264326.2:c.70+278_70+279delinsCA	XP_005264383.1:n.70+278_70+279delinsCA
XM_005264327.2:c.-55+278_-55+279delinsCA	XP_005264384.1:n.-55+278_-55+279delinsCA
XM_006712021.2:c.-136+278_-136+279delinsCA	XP_006712084.1:n.-136+278_-136+279delinsCA
XM_005264326.4:c.70+278_70+279delinsCA	XP_005264383.1:n.70+278_70+279delinsCA
XM_006712021.3:c.-136+278_-136+279delinsCA	XP_006712084.1:n.-136+278_-136+279delinsCA
XM_017004150.1:c.-3183+278_-3183+279delinsCA	XP_016859639.1:n.-3183+278_-3183+279delinsCA
XM_017004151.1:c.-75+278_-75+279delinsCA	XP_016859640.1:n.-75+278_-75+279delinsCA
XM_017004152.1:c.-212+278_-212+279delinsCA	XP_016859641.1:n.-212+278_-212+279delinsCA
XM_024452913.1:c.-136+278_-136+279delinsCA	XP_024308681.1:n.-136+278_-136+279delinsCA
NM_002437.5:c.70+278_70+279delinsCA MANE Select	NP_002428.1:n.70+278_70+279delinsCA