Canonical Allele Identifier: CA10649893
Gene: PITPNM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 324709
ClinVar RCV Id: RCV000342467
dbSNP Id: rs147582461
gnomAD v2: 17-6356444-CCTCT-C
gnomAD v3: 17-6453124-CCTCT-C
gnomAD v4: 17-6453124-CCTCT-C
MyVariant Identifiers: chr17:g.6356451_6356454del (hg19) chr17:g.6356445_6356448del (hg19) chr17:g.6453131_6453134del (hg38) chr17:g.6453125_6453128del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6453140_6453143del , CM000679.2:g.6453140_6453143del GRCh38
NC_000017.10:g.6356460_6356463del , CM000679.1:g.6356460_6356463del GRCh37
NC_000017.9:g.6297184_6297187del NCBI36
NG_016020.1:g.108430_108433del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262483.13:c.*2210_*2213del MANE Select ENSP00000262483.8:n.*2210_*2213del
ENST00000262483.12:c.*2210_*2213del ENSP00000262483.8:n.*2210_*2213del
ENST00000421306.7:c.*2210_*2213del ENSP00000407882.3:n.*2210_*2213del
NM_001165966.1:c.*2210_*2213del NP_001159438.1:n.*2210_*2213del
NM_031220.3:c.*2210_*2213del NP_112497.2:n.*2210_*2213del
XM_011524014.1:c.2620-2701_2620-2698del XP_011522316.1:n.2620-2701_2620-2698del
NM_031220.4:c.*2210_*2213del MANE Select NP_112497.2:n.*2210_*2213del
NM_001165966.2:c.*2210_*2213del NP_001159438.1:n.*2210_*2213del
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