Canonical Allele Identifier: CA1240215956

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27310133_27310136delinsTCTC , CM000664.2:g.27310133_27310136delinsTCTC	GRCh38
NC_000002.11:g.27533001_27533004delinsTCTC , CM000664.1:g.27533001_27533004delinsTCTC	GRCh37
NC_000002.10:g.27386505_27386508delinsTCTC	NCBI36
NG_008075.1:g.17428_17431delinsGAGA
NG_033055.1:g.3127_3130delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.462-155_462-152delinsGAGA MANE Select	ENSP00000369383.1:n.462-155_462-152delinsGAGA
ENST00000233545.6:c.462-155_462-152delinsGAGA	ENSP00000233545.2:n.462-155_462-152delinsGAGA
ENST00000357186.10:c.294-155_294-152delinsGAGA	ENSP00000349713.6:n.294-155_294-152delinsGAGA
ENST00000380044.5:c.462-155_462-152delinsGAGA	ENSP00000369383.1:n.462-155_462-152delinsGAGA
ENST00000402310.5:c.409-155_409-152delinsGAGA	ENSP00000383955.1:n.409-155_409-152delinsGAGA
ENST00000402722.5:c.*41-155_*41-152delinsGAGA	ENSP00000386000.1:n.*41-155_*41-152delinsGAGA
ENST00000405076.5:c.273-155_273-152delinsGAGA	ENSP00000385175.1:n.273-155_273-152delinsGAGA
ENST00000405983.5:c.507-155_507-152delinsGAGA	ENSP00000384586.1:n.507-155_507-152delinsGAGA
ENST00000415514.5:c.*263-155_*263-152delinsGAGA	ENSP00000388043.1:n.*263-155_*263-152delinsGAGA
ENST00000426513.6:c.*127-155_*127-152delinsGAGA	ENSP00000403824.2:n.*127-155_*127-152delinsGAGA
ENST00000430991.5:c.296-155_296-152delinsGAGA
ENST00000620797.4:n.135-155_135-152delinsGAGA
ENST00000621183.4:n.765-155_765-152delinsGAGA
NM_002437.4:c.462-155_462-152delinsGAGA	NP_002428.1:n.462-155_462-152delinsGAGA
XM_005264326.2:c.462-155_462-152delinsGAGA	XP_005264383.1:n.462-155_462-152delinsGAGA
XM_005264327.2:c.303-155_303-152delinsGAGA	XP_005264384.1:n.303-155_303-152delinsGAGA
XM_006712021.2:c.414-155_414-152delinsGAGA	XP_006712084.1:n.414-155_414-152delinsGAGA
XM_005264326.4:c.462-155_462-152delinsGAGA	XP_005264383.1:n.462-155_462-152delinsGAGA
XM_006712021.3:c.414-155_414-152delinsGAGA	XP_006712084.1:n.414-155_414-152delinsGAGA
XM_017004150.1:c.444-155_444-152delinsGAGA	XP_016859639.1:n.444-155_444-152delinsGAGA
XM_017004151.1:c.414-155_414-152delinsGAGA	XP_016859640.1:n.414-155_414-152delinsGAGA
XM_017004152.1:c.303-155_303-152delinsGAGA	XP_016859641.1:n.303-155_303-152delinsGAGA
XM_024452913.1:c.414-155_414-152delinsGAGA	XP_024308681.1:n.414-155_414-152delinsGAGA
NM_002437.5:c.462-155_462-152delinsGAGA MANE Select	NP_002428.1:n.462-155_462-152delinsGAGA