Canonical Allele Identifier: CA1240215901

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27310037_27310038delinsCT , CM000664.2:g.27310037_27310038delinsCT	GRCh38
NC_000002.11:g.27532905_27532906delinsCT , CM000664.1:g.27532905_27532906delinsCT	GRCh37
NC_000002.10:g.27386409_27386410delinsCT	NCBI36
NG_008075.1:g.17526_17527delinsAG
NG_033055.1:g.3225_3226delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.462-57_462-56delinsAG MANE Select	ENSP00000369383.1:n.462-57_462-56delinsAG
ENST00000233545.6:c.462-57_462-56delinsAG	ENSP00000233545.2:n.462-57_462-56delinsAG
ENST00000357186.10:c.294-57_294-56delinsAG	ENSP00000349713.6:n.294-57_294-56delinsAG
ENST00000380044.5:c.462-57_462-56delinsAG	ENSP00000369383.1:n.462-57_462-56delinsAG
ENST00000402310.5:c.409-57_409-56delinsAG	ENSP00000383955.1:n.409-57_409-56delinsAG
ENST00000402722.5:c.*41-57_*41-56delinsAG	ENSP00000386000.1:n.*41-57_*41-56delinsAG
ENST00000405076.5:c.273-57_273-56delinsAG	ENSP00000385175.1:n.273-57_273-56delinsAG
ENST00000405983.5:c.507-57_507-56delinsAG	ENSP00000384586.1:n.507-57_507-56delinsAG
ENST00000415514.5:c.*263-57_*263-56delinsAG	ENSP00000388043.1:n.*263-57_*263-56delinsAG
ENST00000426513.6:c.*127-57_*127-56delinsAG	ENSP00000403824.2:n.*127-57_*127-56delinsAG
ENST00000430991.5:c.296-57_296-56delinsAG
ENST00000620797.4:n.135-57_135-56delinsAG
ENST00000621183.4:n.765-57_765-56delinsAG
NM_002437.4:c.462-57_462-56delinsAG	NP_002428.1:n.462-57_462-56delinsAG
XM_005264326.2:c.462-57_462-56delinsAG	XP_005264383.1:n.462-57_462-56delinsAG
XM_005264327.2:c.303-57_303-56delinsAG	XP_005264384.1:n.303-57_303-56delinsAG
XM_006712021.2:c.414-57_414-56delinsAG	XP_006712084.1:n.414-57_414-56delinsAG
XM_005264326.4:c.462-57_462-56delinsAG	XP_005264383.1:n.462-57_462-56delinsAG
XM_006712021.3:c.414-57_414-56delinsAG	XP_006712084.1:n.414-57_414-56delinsAG
XM_017004150.1:c.444-57_444-56delinsAG	XP_016859639.1:n.444-57_444-56delinsAG
XM_017004151.1:c.414-57_414-56delinsAG	XP_016859640.1:n.414-57_414-56delinsAG
XM_017004152.1:c.303-57_303-56delinsAG	XP_016859641.1:n.303-57_303-56delinsAG
XM_024452913.1:c.414-57_414-56delinsAG	XP_024308681.1:n.414-57_414-56delinsAG
NM_002437.5:c.462-57_462-56delinsAG MANE Select	NP_002428.1:n.462-57_462-56delinsAG