Canonical Allele Identifier: CA1240217331

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313012_27313025delinsGGACACCATGGTCA , CM000664.2:g.27313012_27313025delinsGGACACCATGGTCA	GRCh38
NC_000002.11:g.27535879_27535892delinsGGACACCATGGTCA , CM000664.1:g.27535879_27535892delinsGGACACCATGGTCA	GRCh37
NC_000002.10:g.27389383_27389396delinsGGACACCATGGTCA	NCBI36
NG_008075.1:g.14540_14553delinsTGACCATGGTGTCC
NG_033055.1:g.239_252delinsTGACCATGGTGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.155_168delinsTGACCATGGTGTCC MANE Select	ENSP00000369383.1:p.Leu52=
ENST00000233545.6:c.155_168delinsTGACCATGGTGTCC	ENSP00000233545.2:p.Leu52=
ENST00000357186.10:c.19-253_19-240delinsTGACCATGGTGTCC	ENSP00000349713.6:n.19-253_19-240delinsTGACCATGGTGTCC
ENST00000380044.5:c.155_168delinsTGACCATGGTGTCC	ENSP00000369383.1:p.Leu52=
ENST00000402310.5:c.155_168delinsTGACCATGGTGTCC	ENSP00000383955.1:p.Leu52=
ENST00000402722.5:c.120_133delinsTGACCATGGTGTCC	ENSP00000386000.1:p.Ser40=
ENST00000403262.6:c.155_168delinsTGACCATGGTGTCC	ENSP00000385671.1:p.Leu52=
ENST00000405076.5:c.155_168delinsTGACCATGGTGTCC	ENSP00000385175.1:p.Leu52=
ENST00000405983.5:c.200_213delinsTGACCATGGTGTCC	ENSP00000384586.1:p.Leu67=
ENST00000415514.5:c.228-253_228-240delinsTGACCATGGTGTCC	ENSP00000388043.1:n.228-253_228-240delinsTGACCATGGTGTCC
ENST00000426513.6:c.120_133delinsTGACCATGGTGTCC	ENSP00000403824.2:p.Ser40=
ENST00000428910.5:c.77_90delinsTGACCATGGTGTCC	ENSP00000405235.1:p.Leu26=
ENST00000430991.5:c.85_98delinsTGACCATGGTGTCC
ENST00000616446.1:n.132_145delinsTGACCATGGTGTCC
ENST00000616707.1:n.363_376delinsTGACCATGGTGTCC
ENST00000617583.4:n.181_194delinsTGACCATGGTGTCC
ENST00000621183.4:n.211_224delinsTGACCATGGTGTCC
ENST00000621470.4:n.171_184delinsTGACCATGGTGTCC
ENST00000622003.4:n.328_341delinsTGACCATGGTGTCC
NM_002437.4:c.155_168delinsTGACCATGGTGTCC	NP_002428.1:p.Leu52=
XM_005264326.2:c.155_168delinsTGACCATGGTGTCC	XP_005264383.1:p.Leu52=
XM_005264327.2:c.-5_9delinsTGACCATGGTGTCC
XM_006712021.2:c.107_120delinsTGACCATGGTGTCC	XP_006712084.1:p.Leu36=
XM_005264326.4:c.155_168delinsTGACCATGGTGTCC	XP_005264383.1:p.Leu52=
XM_006712021.3:c.107_120delinsTGACCATGGTGTCC	XP_006712084.1:p.Leu36=
XM_017004150.1:c.137_150delinsTGACCATGGTGTCC	XP_016859639.1:p.Leu46=
XM_017004151.1:c.107_120delinsTGACCATGGTGTCC	XP_016859640.1:p.Leu36=
XM_017004152.1:c.-5_9delinsTGACCATGGTGTCC
XM_024452913.1:c.107_120delinsTGACCATGGTGTCC	XP_024308681.1:p.Leu36=
NM_002437.5:c.155_168delinsTGACCATGGTGTCC MANE Select	NP_002428.1:p.Leu52=