Canonical Allele Identifier: CA1240217125

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312575_27312576delinsCG , CM000664.2:g.27312575_27312576delinsCG	GRCh38
NC_000002.11:g.27535442_27535443delinsCG , CM000664.1:g.27535442_27535443delinsCG	GRCh37
NC_000002.10:g.27388946_27388947delinsCG	NCBI36
NG_008075.1:g.14989_14990delinsCG
NG_033055.1:g.688_689delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.293_294delinsCG MANE Select	ENSP00000369383.1:p.Pro98=
ENST00000233545.6:c.293_294delinsCG	ENSP00000233545.2:p.Pro98=
ENST00000357186.10:c.125_126delinsCG	ENSP00000349713.6:p.Pro42=
ENST00000380044.5:c.293_294delinsCG	ENSP00000369383.1:p.Pro98=
ENST00000402310.5:c.293_294delinsCG	ENSP00000383955.1:p.Pro98=
ENST00000402722.5:c.258_259delinsCG	ENSP00000386000.1:p.Pro86=
ENST00000403262.6:c.293_294delinsCG	ENSP00000385671.1:p.Pro98=
ENST00000405076.5:c.187-330_187-329delinsCG	ENSP00000385175.1:n.187-330_187-329delinsCG
ENST00000405983.5:c.338_339delinsCG	ENSP00000384586.1:p.Pro113=
ENST00000415514.5:c.*94_*95delinsCG	ENSP00000388043.1:n.*94_*95delinsCG
ENST00000426513.6:c.258_259delinsCG	ENSP00000403824.2:p.Pro86=
ENST00000428910.5:c.215_216delinsCG	ENSP00000405235.1:p.Pro72=
ENST00000430991.5:c.209+104_209+105delinsCG
ENST00000475085.1:n.321_322delinsCG
ENST00000616446.1:n.270_271delinsCG
ENST00000616707.1:n.812_813delinsCG
ENST00000617583.4:n.319_320delinsCG
ENST00000621183.4:n.349_350delinsCG
ENST00000621470.4:n.309_310delinsCG
ENST00000622003.4:n.466_467delinsCG
NM_002437.4:c.293_294delinsCG	NP_002428.1:p.Pro98=
XM_005264326.2:c.293_294delinsCG	XP_005264383.1:p.Pro98=
XM_005264327.2:c.134_135delinsCG	XP_005264384.1:p.Pro45=
XM_006712021.2:c.245_246delinsCG	XP_006712084.1:p.Pro82=
XM_005264326.4:c.293_294delinsCG	XP_005264383.1:p.Pro98=
XM_006712021.3:c.245_246delinsCG	XP_006712084.1:p.Pro82=
XM_017004150.1:c.275_276delinsCG	XP_016859639.1:p.Pro92=
XM_017004151.1:c.245_246delinsCG	XP_016859640.1:p.Pro82=
XM_017004152.1:c.134_135delinsCG	XP_016859641.1:p.Pro45=
XM_024452913.1:c.245_246delinsCG	XP_024308681.1:p.Pro82=
NM_002437.5:c.293_294delinsCG MANE Select	NP_002428.1:p.Pro98=