Canonical Allele Identifier: CA767383090
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1328390271
gnomAD v3: 2-27323252-ACC-A
gnomAD v4: 2-27323252-ACC-A
MyVariant Identifiers: chr2:g.27546120_27546121del (hg19) chr2:g.27323253_27323254del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323254_27323255del , CM000664.2:g.27323254_27323255del GRCh38
NC_000002.11:g.27546121_27546122del , CM000664.1:g.27546121_27546122del GRCh37
NC_000002.10:g.27399625_27399626del NCBI36
NG_008075.1:g.4311_4312del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1179_18+1180del ENSP00000349713.6:n.18+1179_18+1180del
XM_005264327.2:c.-332_-331del XP_005264384.1:n.-332_-331del
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