Canonical Allele Identifier: CA2586968867

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313101_27313111delinsGGCC , CM000664.2:g.27313101_27313111delinsGGCC	GRCh38
NC_000002.11:g.27535968_27535978delinsGGCC , CM000664.1:g.27535968_27535978delinsGGCC	GRCh37
NC_000002.10:g.27389472_27389482delinsGGCC	NCBI36
NG_008075.1:g.14454_14464delinsGGCC
NG_033055.1:g.153_163delinsGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.71-2_79delinsGGCC
ENST00000233545.6:c.71-2_79delinsGGCC
ENST00000357186.10:c.19-339_19-329delinsGGCC	ENSP00000349713.6:n.19-339_19-329delinsGGCC
ENST00000380044.5:c.71-2_79delinsGGCC
ENST00000402310.5:c.71-2_79delinsGGCC
ENST00000402722.5:c.71-37_71-27delinsGGCC	ENSP00000386000.1:n.71-37_71-27delinsGGCC
ENST00000403262.6:c.71-2_79delinsGGCC
ENST00000405076.5:c.71-2_79delinsGGCC
ENST00000405983.5:c.114_124delinsGGCC	ENSP00000384586.1:p.Ile38MetfsTer28
ENST00000415514.5:c.228-339_228-329delinsGGCC	ENSP00000388043.1:n.228-339_228-329delinsGGCC
ENST00000426513.6:c.71-37_71-27delinsGGCC	ENSP00000403824.2:n.71-37_71-27delinsGGCC
ENST00000428910.5:c.-8-2_1delinsGGCC
ENST00000616446.1:n.46_56delinsGGCC
ENST00000616707.1:n.277_287delinsGGCC
ENST00000617583.4:n.97-2_105delinsGGCC
ENST00000621183.4:n.127-2_135delinsGGCC
ENST00000621470.4:n.122-37_122-27delinsGGCC
ENST00000622003.4:n.244-2_252delinsGGCC
NM_002437.4:c.71-2_79delinsGGCC
XM_005264326.2:c.71-2_79delinsGGCC
XM_005264327.2:c.-54-37_-54-27delinsGGCC	XP_005264384.1:n.-54-37_-54-27delinsGGCC
XM_006712021.2:c.23-2_31delinsGGCC
XM_005264326.4:c.71-2_79delinsGGCC
XM_006712021.3:c.23-2_31delinsGGCC
XM_017004150.1:c.51_61delinsGGCC	XP_016859639.1:p.Ile17MetfsTer28
XM_017004151.1:c.23-2_31delinsGGCC
XM_017004152.1:c.-54-37_-54-27delinsGGCC	XP_016859641.1:n.-54-37_-54-27delinsGGCC
XM_024452913.1:c.23-2_31delinsGGCC
NM_002437.5:c.71-2_79delinsGGCC