Canonical Allele Identifier: CA2586968818
Gene: MPV17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323062_27323068del , CM000664.2:g.27323062_27323068del GRCh38
NC_000002.11:g.27545929_27545935del , CM000664.1:g.27545929_27545935del GRCh37
NC_000002.10:g.27399433_27399439del NCBI36
NG_008075.1:g.4497_4503del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.-22_-16del MANE Select ENSP00000369383.1:n.-22_-16del
ENST00000357186.10:c.18+1365_18+1371del ENSP00000349713.6:n.18+1365_18+1371del
ENST00000380044.5:c.-22_-16del ENSP00000369383.1:n.-22_-16del
ENST00000399052.8:c.-22_-16del ENSP00000382006.4:n.-22_-16del
ENST00000402722.5:c.-22_-16del ENSP00000386000.1:n.-22_-16del
ENST00000405076.5:c.-22_-16del ENSP00000385175.1:n.-22_-16del
ENST00000426513.6:c.-22_-16del ENSP00000403824.2:n.-22_-16del
ENST00000428910.5:c.-224_-218del ENSP00000405235.1:n.-224_-218del
ENST00000486898.1:n.30_36del
ENST00000494436.1:n.10_16del
ENST00000617583.4:n.5_11del
ENST00000621183.4:n.35_41del
ENST00000621470.4:n.30_36del
NM_002437.4:c.-22_-16del NP_002428.1:n.-22_-16del
XM_005264327.2:c.-146_-140del XP_005264384.1:n.-146_-140del
XM_006712021.2:c.-227_-221del XP_006712084.1:n.-227_-221del
XM_005264326.4:c.-84_-78del XP_005264383.1:n.-84_-78del
XM_006712021.3:c.-227_-221del XP_006712084.1:n.-227_-221del
XM_017004150.1:c.-3274_-3268del XP_016859639.1:n.-3274_-3268del
NM_002437.5:c.-22_-16del MANE Select NP_002428.1:n.-22_-16del