Canonical Allele Identifier: CA2658328337
Gene: MPV17 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27322651_27322653dup , CM000664.2:g.27322651_27322653dup GRCh38
NC_000002.11:g.27545518_27545520dup , CM000664.1:g.27545518_27545520dup GRCh37
NC_000002.10:g.27399022_27399024dup NCBI36
NG_008075.1:g.4912_4914dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.-5-131_-5-129dup MANE Select ENSP00000369383.1:n.-5-131_-5-129dup
ENST00000357186.10:c.18+1780_18+1782dup ENSP00000349713.6:n.18+1780_18+1782dup
ENST00000380044.5:c.-5-131_-5-129dup ENSP00000369383.1:n.-5-131_-5-129dup
ENST00000399052.8:c.-5-131_-5-129dup ENSP00000382006.4:n.-5-131_-5-129dup
ENST00000402310.5:c.-5-131_-5-129dup ENSP00000383955.1:n.-5-131_-5-129dup
ENST00000402722.5:c.-5-131_-5-129dup ENSP00000386000.1:n.-5-131_-5-129dup
ENST00000403262.6:c.-5-131_-5-129dup ENSP00000385671.1:n.-5-131_-5-129dup
ENST00000405076.5:c.-5-131_-5-129dup ENSP00000385175.1:n.-5-131_-5-129dup
ENST00000405983.5:c.-5-131_-5-129dup ENSP00000384586.1:n.-5-131_-5-129dup
ENST00000415514.5:c.-5-131_-5-129dup ENSP00000388043.1:n.-5-131_-5-129dup
ENST00000426513.6:c.-5-131_-5-129dup ENSP00000403824.2:n.-5-131_-5-129dup
ENST00000428910.5:c.-207-131_-207-129dup ENSP00000405235.1:n.-207-131_-207-129dup
ENST00000486898.1:n.47-131_47-129dup
ENST00000494436.1:n.27-131_27-129dup
ENST00000617583.4:n.22-131_22-129dup
ENST00000621183.4:n.52-131_52-129dup
ENST00000621470.4:n.47-131_47-129dup
ENST00000622003.4:n.12-131_12-129dup
NM_002437.4:c.-5-131_-5-129dup NP_002428.1:n.-5-131_-5-129dup
XM_005264326.2:c.-5-131_-5-129dup XP_005264383.1:n.-5-131_-5-129dup
XM_005264327.2:c.-129-131_-129-129dup XP_005264384.1:n.-129-131_-129-129dup
XM_006712021.2:c.-210-131_-210-129dup XP_006712084.1:n.-210-131_-210-129dup
XM_005264326.4:c.-5-131_-5-129dup XP_005264383.1:n.-5-131_-5-129dup
XM_006712021.3:c.-210-131_-210-129dup XP_006712084.1:n.-210-131_-210-129dup
XM_017004150.1:c.-3257-131_-3257-129dup XP_016859639.1:n.-3257-131_-3257-129dup
XM_024452913.1:c.-210-131_-210-129dup XP_024308681.1:n.-210-131_-210-129dup
NM_002437.5:c.-5-131_-5-129dup MANE Select NP_002428.1:n.-5-131_-5-129dup