Canonical Allele Identifier: CA1240221329

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322143_27322154delinsAAAATGTTTTCC , CM000664.2:g.27322143_27322154delinsAAAATGTTTTCC	GRCh38
NC_000002.11:g.27545010_27545021delinsAAAATGTTTTCC , CM000664.1:g.27545010_27545021delinsAAAATGTTTTCC	GRCh37
NC_000002.10:g.27398514_27398525delinsAAAATGTTTTCC	NCBI36
NG_008075.1:g.5411_5422delinsGGAAAACATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.70+294_70+305delinsGGAAAACATTTT MANE Select	ENSP00000369383.1:n.70+294_70+305delinsGGAAAACATTTT
ENST00000233545.6:c.70+294_70+305delinsGGAAAACATTTT	ENSP00000233545.2:n.70+294_70+305delinsGGAAAACATTTT
ENST00000357186.10:c.18+2279_18+2290delinsGGAAAACATTTT	ENSP00000349713.6:n.18+2279_18+2290delinsGGAAAACATTTT
ENST00000380044.5:c.70+294_70+305delinsGGAAAACATTTT	ENSP00000369383.1:n.70+294_70+305delinsGGAAAACATTTT
ENST00000399052.8:c.70+294_70+305delinsGGAAAACATTTT	ENSP00000382006.4:n.70+294_70+305delinsGGAAAACATTTT
ENST00000402310.5:c.70+294_70+305delinsGGAAAACATTTT	ENSP00000383955.1:n.70+294_70+305delinsGGAAAACATTTT
ENST00000402722.5:c.70+294_70+305delinsGGAAAACATTTT	ENSP00000386000.1:n.70+294_70+305delinsGGAAAACATTTT
ENST00000403262.6:c.70+294_70+305delinsGGAAAACATTTT	ENSP00000385671.1:n.70+294_70+305delinsGGAAAACATTTT
ENST00000405076.5:c.70+294_70+305delinsGGAAAACATTTT	ENSP00000385175.1:n.70+294_70+305delinsGGAAAACATTTT
ENST00000405983.5:c.70+294_70+305delinsGGAAAACATTTT	ENSP00000384586.1:n.70+294_70+305delinsGGAAAACATTTT
ENST00000415514.5:c.70+294_70+305delinsGGAAAACATTTT	ENSP00000388043.1:n.70+294_70+305delinsGGAAAACATTTT
ENST00000426513.6:c.70+294_70+305delinsGGAAAACATTTT	ENSP00000403824.2:n.70+294_70+305delinsGGAAAACATTTT
ENST00000428910.5:c.-133+294_-133+305delinsGGAAAACATTTT	ENSP00000405235.1:n.-133+294_-133+305delinsGGAAAACATTTT
ENST00000486898.1:n.121+294_121+305delinsGGAAAACATTTT
ENST00000494436.1:n.395_406delinsGGAAAACATTTT
ENST00000617583.4:n.96+294_96+305delinsGGAAAACATTTT
ENST00000621183.4:n.126+294_126+305delinsGGAAAACATTTT
ENST00000621470.4:n.121+294_121+305delinsGGAAAACATTTT
ENST00000622003.4:n.86+294_86+305delinsGGAAAACATTTT
NM_002437.4:c.70+294_70+305delinsGGAAAACATTTT	NP_002428.1:n.70+294_70+305delinsGGAAAACATTTT
XM_005264326.2:c.70+294_70+305delinsGGAAAACATTTT	XP_005264383.1:n.70+294_70+305delinsGGAAAACATTTT
XM_005264327.2:c.-55+294_-55+305delinsGGAAAACATTTT	XP_005264384.1:n.-55+294_-55+305delinsGGAAAACATTTT
XM_006712021.2:c.-136+294_-136+305delinsGGAAAACATTTT	XP_006712084.1:n.-136+294_-136+305delinsGGAAAACATTTT
XM_005264326.4:c.70+294_70+305delinsGGAAAACATTTT	XP_005264383.1:n.70+294_70+305delinsGGAAAACATTTT
XM_006712021.3:c.-136+294_-136+305delinsGGAAAACATTTT	XP_006712084.1:n.-136+294_-136+305delinsGGAAAACATTTT
XM_017004150.1:c.-3183+294_-3183+305delinsGGAAAACATTTT	XP_016859639.1:n.-3183+294_-3183+305delinsGGAAAACATTTT
XM_017004151.1:c.-75+294_-75+305delinsGGAAAACATTTT	XP_016859640.1:n.-75+294_-75+305delinsGGAAAACATTTT
XM_017004152.1:c.-212+294_-212+305delinsGGAAAACATTTT	XP_016859641.1:n.-212+294_-212+305delinsGGAAAACATTTT
XM_024452913.1:c.-136+294_-136+305delinsGGAAAACATTTT	XP_024308681.1:n.-136+294_-136+305delinsGGAAAACATTTT
NM_002437.5:c.70+294_70+305delinsGGAAAACATTTT MANE Select	NP_002428.1:n.70+294_70+305delinsGGAAAACATTTT