Canonical Allele Identifier: CA1240217326

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312994_27312995delinsCA , CM000664.2:g.27312994_27312995delinsCA	GRCh38
NC_000002.11:g.27535861_27535862delinsCA , CM000664.1:g.27535861_27535862delinsCA	GRCh37
NC_000002.10:g.27389365_27389366delinsCA	NCBI36
NG_008075.1:g.14570_14571delinsTG
NG_033055.1:g.269_270delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.185_186delinsTG MANE Select	ENSP00000369383.1:p.Val62=
ENST00000233545.6:c.185_186delinsTG	ENSP00000233545.2:p.Val62=
ENST00000357186.10:c.19-223_19-222delinsTG	ENSP00000349713.6:n.19-223_19-222delinsTG
ENST00000380044.5:c.185_186delinsTG	ENSP00000369383.1:p.Val62=
ENST00000402310.5:c.185_186delinsTG	ENSP00000383955.1:p.Val62=
ENST00000402722.5:c.150_151delinsTG	ENSP00000386000.1:p.Cys50=
ENST00000403262.6:c.185_186delinsTG	ENSP00000385671.1:p.Val62=
ENST00000405076.5:c.185_186delinsTG	ENSP00000385175.1:p.Val62=
ENST00000405983.5:c.230_231delinsTG	ENSP00000384586.1:p.Val77=
ENST00000415514.5:c.228-223_228-222delinsTG	ENSP00000388043.1:n.228-223_228-222delinsTG
ENST00000426513.6:c.150_151delinsTG	ENSP00000403824.2:p.Cys50=
ENST00000428910.5:c.107_108delinsTG	ENSP00000405235.1:p.Val36=
ENST00000430991.5:c.115_116delinsTG
ENST00000616446.1:n.162_163delinsTG
ENST00000616707.1:n.393_394delinsTG
ENST00000617583.4:n.211_212delinsTG
ENST00000621183.4:n.241_242delinsTG
ENST00000621470.4:n.201_202delinsTG
ENST00000622003.4:n.358_359delinsTG
NM_002437.4:c.185_186delinsTG	NP_002428.1:p.Val62=
XM_005264326.2:c.185_186delinsTG	XP_005264383.1:p.Val62=
XM_005264327.2:c.26_27delinsTG	XP_005264384.1:p.Val9=
XM_006712021.2:c.137_138delinsTG	XP_006712084.1:p.Val46=
XM_005264326.4:c.185_186delinsTG	XP_005264383.1:p.Val62=
XM_006712021.3:c.137_138delinsTG	XP_006712084.1:p.Val46=
XM_017004150.1:c.167_168delinsTG	XP_016859639.1:p.Val56=
XM_017004151.1:c.137_138delinsTG	XP_016859640.1:p.Val46=
XM_017004152.1:c.26_27delinsTG	XP_016859641.1:p.Val9=
XM_024452913.1:c.137_138delinsTG	XP_024308681.1:p.Val46=
NM_002437.5:c.185_186delinsTG MANE Select	NP_002428.1:p.Val62=