Canonical Allele Identifier: CA767383065
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1194740382
gnomAD v3: 2-27323213-ACT-A
gnomAD v4: 2-27323213-ACT-A
MyVariant Identifiers: chr2:g.27546081_27546082del (hg19) chr2:g.27323214_27323215del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323216_27323217del , CM000664.2:g.27323216_27323217del GRCh38
NC_000002.11:g.27546083_27546084del , CM000664.1:g.27546083_27546084del GRCh37
NC_000002.10:g.27399587_27399588del NCBI36
NG_008075.1:g.4350_4351del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1218_18+1219del ENSP00000349713.6:n.18+1218_18+1219del
XM_005264327.2:c.-293_-292del XP_005264384.1:n.-293_-292del
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