Canonical Allele Identifier: CA2749263187

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312648_27312652del , CM000664.2:g.27312648_27312652del	GRCh38
NC_000002.11:g.27535515_27535519del , CM000664.1:g.27535515_27535519del	GRCh37
NC_000002.10:g.27389019_27389023del	NCBI36
NG_008075.1:g.14915_14919del
NG_033055.1:g.614_618del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.279+30_279+34del MANE Select	ENSP00000369383.1:n.279+30_279+34del
ENST00000233545.6:c.279+30_279+34del	ENSP00000233545.2:n.279+30_279+34del
ENST00000357186.10:c.111+30_111+34del	ENSP00000349713.6:n.111+30_111+34del
ENST00000380044.5:c.279+30_279+34del	ENSP00000369383.1:n.279+30_279+34del
ENST00000402310.5:c.279+30_279+34del	ENSP00000383955.1:n.279+30_279+34del
ENST00000402722.5:c.244+30_244+34del	ENSP00000386000.1:n.244+30_244+34del
ENST00000403262.6:c.279+30_279+34del	ENSP00000385671.1:n.279+30_279+34del
ENST00000405076.5:c.186+344_186+348del	ENSP00000385175.1:n.186+344_186+348del
ENST00000405983.5:c.324+30_324+34del	ENSP00000384586.1:n.324+30_324+34del
ENST00000415514.5:c.*80+30_*80+34del	ENSP00000388043.1:n.*80+30_*80+34del
ENST00000426513.6:c.244+30_244+34del	ENSP00000403824.2:n.244+30_244+34del
ENST00000428910.5:c.201+30_201+34del	ENSP00000405235.1:n.201+30_201+34del
ENST00000430991.5:c.209+30_209+34del
ENST00000475085.1:n.307+30_307+34del
ENST00000616446.1:n.256+30_256+34del
ENST00000616707.1:n.738_742del
ENST00000617583.4:n.305+30_305+34del
ENST00000621183.4:n.335+30_335+34del
ENST00000621470.4:n.295+30_295+34del
ENST00000622003.4:n.452+30_452+34del
NM_002437.4:c.279+30_279+34del	NP_002428.1:n.279+30_279+34del
XM_005264326.2:c.279+30_279+34del	XP_005264383.1:n.279+30_279+34del
XM_005264327.2:c.120+30_120+34del	XP_005264384.1:n.120+30_120+34del
XM_006712021.2:c.231+30_231+34del	XP_006712084.1:n.231+30_231+34del
XM_005264326.4:c.279+30_279+34del	XP_005264383.1:n.279+30_279+34del
XM_006712021.3:c.231+30_231+34del	XP_006712084.1:n.231+30_231+34del
XM_017004150.1:c.261+30_261+34del	XP_016859639.1:n.261+30_261+34del
XM_017004151.1:c.231+30_231+34del	XP_016859640.1:n.231+30_231+34del
XM_017004152.1:c.120+30_120+34del	XP_016859641.1:n.120+30_120+34del
XM_024452913.1:c.231+30_231+34del	XP_024308681.1:n.231+30_231+34del
NM_002437.5:c.279+30_279+34del MANE Select	NP_002428.1:n.279+30_279+34del