Canonical Allele Identifier: CA1240215857

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309936_27309940delinsCAGGT , CM000664.2:g.27309936_27309940delinsCAGGT	GRCh38
NC_000002.11:g.27532804_27532808delinsCAGGT , CM000664.1:g.27532804_27532808delinsCAGGT	GRCh37
NC_000002.10:g.27386308_27386312delinsCAGGT	NCBI36
NG_008075.1:g.17624_17628delinsACCTG
NG_033055.1:g.3323_3327delinsACCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.503_507delinsACCTG MANE Select	ENSP00000369383.1:p.Tyr168=
ENST00000233545.6:c.503_507delinsACCTG	ENSP00000233545.2:p.Tyr168=
ENST00000357186.10:c.335_339delinsACCTG	ENSP00000349713.6:p.Tyr112=
ENST00000380044.5:c.503_507delinsACCTG	ENSP00000369383.1:p.Tyr168=
ENST00000402310.5:c.450_454delinsACCTG	ENSP00000383955.1:p.Leu150=
ENST00000402722.5:c.*82_*86delinsACCTG	ENSP00000386000.1:n.*82_*86delinsACCTG
ENST00000405076.5:c.314_318delinsACCTG	ENSP00000385175.1:p.Tyr105=
ENST00000405983.5:c.548_552delinsACCTG	ENSP00000384586.1:p.Tyr183=
ENST00000415514.5:c.*304_*308delinsACCTG	ENSP00000388043.1:n.*304_*308delinsACCTG
ENST00000426513.6:c.*168_*172delinsACCTG	ENSP00000403824.2:n.*168_*172delinsACCTG
ENST00000430991.5:c.337_341delinsACCTG
ENST00000620797.4:n.176_180delinsACCTG
ENST00000621183.4:n.806_810delinsACCTG
NM_002437.4:c.503_507delinsACCTG	NP_002428.1:p.Tyr168=
XM_005264326.2:c.503_507delinsACCTG	XP_005264383.1:p.Tyr168=
XM_005264327.2:c.344_348delinsACCTG	XP_005264384.1:p.Tyr115=
XM_006712021.2:c.455_459delinsACCTG	XP_006712084.1:p.Tyr152=
XM_005264326.4:c.503_507delinsACCTG	XP_005264383.1:p.Tyr168=
XM_006712021.3:c.455_459delinsACCTG	XP_006712084.1:p.Tyr152=
XM_017004150.1:c.485_489delinsACCTG	XP_016859639.1:p.Tyr162=
XM_017004151.1:c.455_459delinsACCTG	XP_016859640.1:p.Tyr152=
XM_017004152.1:c.344_348delinsACCTG	XP_016859641.1:p.Tyr115=
XM_024452913.1:c.455_459delinsACCTG	XP_024308681.1:p.Tyr152=
NM_002437.5:c.503_507delinsACCTG MANE Select	NP_002428.1:p.Tyr168=