Canonical Allele Identifier: CA1240215871

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309965_27309966delinsAT , CM000664.2:g.27309965_27309966delinsAT	GRCh38
NC_000002.11:g.27532833_27532834delinsAT , CM000664.1:g.27532833_27532834delinsAT	GRCh37
NC_000002.10:g.27386337_27386338delinsAT	NCBI36
NG_008075.1:g.17598_17599delinsAT
NG_033055.1:g.3297_3298delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.477_478delinsAT MANE Select	ENSP00000369383.1:p.Gln159=
ENST00000233545.6:c.477_478delinsAT	ENSP00000233545.2:p.Gln159=
ENST00000357186.10:c.309_310delinsAT	ENSP00000349713.6:p.Gln103=
ENST00000380044.5:c.477_478delinsAT	ENSP00000369383.1:p.Gln159=
ENST00000402310.5:c.424_425delinsAT	ENSP00000383955.1:p.Met142=
ENST00000402722.5:c.*56_*57delinsAT	ENSP00000386000.1:n.*56_*57delinsAT
ENST00000405076.5:c.288_289delinsAT	ENSP00000385175.1:p.Gln96=
ENST00000405983.5:c.522_523delinsAT	ENSP00000384586.1:p.Gln174=
ENST00000415514.5:c.*278_*279delinsAT	ENSP00000388043.1:n.*278_*279delinsAT
ENST00000426513.6:c.*142_*143delinsAT	ENSP00000403824.2:n.*142_*143delinsAT
ENST00000430991.5:c.311_312delinsAT
ENST00000620797.4:n.150_151delinsAT
ENST00000621183.4:n.780_781delinsAT
NM_002437.4:c.477_478delinsAT	NP_002428.1:p.Gln159=
XM_005264326.2:c.477_478delinsAT	XP_005264383.1:p.Gln159=
XM_005264327.2:c.318_319delinsAT	XP_005264384.1:p.Gln106=
XM_006712021.2:c.429_430delinsAT	XP_006712084.1:p.Gln143=
XM_005264326.4:c.477_478delinsAT	XP_005264383.1:p.Gln159=
XM_006712021.3:c.429_430delinsAT	XP_006712084.1:p.Gln143=
XM_017004150.1:c.459_460delinsAT	XP_016859639.1:p.Gln153=
XM_017004151.1:c.429_430delinsAT	XP_016859640.1:p.Gln143=
XM_017004152.1:c.318_319delinsAT	XP_016859641.1:p.Gln106=
XM_024452913.1:c.429_430delinsAT	XP_024308681.1:p.Gln143=
NM_002437.5:c.477_478delinsAT MANE Select	NP_002428.1:p.Gln159=