Canonical Allele Identifier: CA1240216760

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311839_27311840delinsTG , CM000664.2:g.27311839_27311840delinsTG	GRCh38
NC_000002.11:g.27534707_27534708delinsTG , CM000664.1:g.27534707_27534708delinsTG	GRCh37
NC_000002.10:g.27388211_27388212delinsTG	NCBI36
NG_008075.1:g.15724_15725delinsCA
NG_033055.1:g.1423_1424delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.461+59_461+60delinsCA MANE Select	ENSP00000369383.1:n.461+59_461+60delinsCA
ENST00000233545.6:c.461+59_461+60delinsCA	ENSP00000233545.2:n.461+59_461+60delinsCA
ENST00000357186.10:c.293+59_293+60delinsCA	ENSP00000349713.6:n.293+59_293+60delinsCA
ENST00000380044.5:c.461+59_461+60delinsCA	ENSP00000369383.1:n.461+59_461+60delinsCA
ENST00000402310.5:c.408+374_408+375delinsCA	ENSP00000383955.1:n.408+374_408+375delinsCA
ENST00000402722.5:c.*40+654_*40+655delinsCA	ENSP00000386000.1:n.*40+654_*40+655delinsCA
ENST00000403262.6:c.461+59_461+60delinsCA	ENSP00000385671.1:n.461+59_461+60delinsCA
ENST00000405076.5:c.272+59_272+60delinsCA	ENSP00000385175.1:n.272+59_272+60delinsCA
ENST00000405983.5:c.506+59_506+60delinsCA	ENSP00000384586.1:n.506+59_506+60delinsCA
ENST00000415514.5:c.*262+59_*262+60delinsCA	ENSP00000388043.1:n.*262+59_*262+60delinsCA
ENST00000426513.6:c.*126+59_*126+60delinsCA	ENSP00000403824.2:n.*126+59_*126+60delinsCA
ENST00000430991.5:c.295+59_295+60delinsCA
ENST00000616707.1:n.1548_1549delinsCA
ENST00000620797.4:n.134+59_134+60delinsCA
ENST00000621183.4:n.764+59_764+60delinsCA
NM_002437.4:c.461+59_461+60delinsCA	NP_002428.1:n.461+59_461+60delinsCA
XM_005264326.2:c.461+59_461+60delinsCA	XP_005264383.1:n.461+59_461+60delinsCA
XM_005264327.2:c.302+59_302+60delinsCA	XP_005264384.1:n.302+59_302+60delinsCA
XM_006712021.2:c.413+59_413+60delinsCA	XP_006712084.1:n.413+59_413+60delinsCA
XM_005264326.4:c.461+59_461+60delinsCA	XP_005264383.1:n.461+59_461+60delinsCA
XM_006712021.3:c.413+59_413+60delinsCA	XP_006712084.1:n.413+59_413+60delinsCA
XM_017004150.1:c.443+59_443+60delinsCA	XP_016859639.1:n.443+59_443+60delinsCA
XM_017004151.1:c.413+59_413+60delinsCA	XP_016859640.1:n.413+59_413+60delinsCA
XM_017004152.1:c.302+59_302+60delinsCA	XP_016859641.1:n.302+59_302+60delinsCA
XM_024452913.1:c.413+59_413+60delinsCA	XP_024308681.1:n.413+59_413+60delinsCA
NM_002437.5:c.461+59_461+60delinsCA MANE Select	NP_002428.1:n.461+59_461+60delinsCA