Canonical Allele Identifier: CA1240221822
Gene: MPV17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323140_27323146delinsTACGCAG , CM000664.2:g.27323140_27323146delinsTACGCAG GRCh38
NC_000002.11:g.27546007_27546013delinsTACGCAG , CM000664.1:g.27546007_27546013delinsTACGCAG GRCh37
NC_000002.10:g.27399511_27399517delinsTACGCAG NCBI36
NG_008075.1:g.4419_4425delinsCTGCGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1287_18+1293delinsCTGCGTA ENSP00000349713.6:n.18+1287_18+1293delinsCTGCGTA
XM_005264327.2:c.-224_-218delinsCTGCGTA XP_005264384.1:n.-224_-218delinsCTGCGTA