Canonical Allele Identifier: CA10649894
Gene: PITPNM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 324712
ClinVar RCV Id: RCV000358036
dbSNP Id: rs886053294
gnomAD v2: 17-6356473-CTT-C
gnomAD v3: 17-6453153-CTT-C
gnomAD v4: 17-6453153-CTT-C
MyVariant Identifiers: chr17:g.6356474_6356475del (hg19) chr17:g.6453154_6453155del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6453155_6453156del , CM000679.2:g.6453155_6453156del GRCh38
NC_000017.10:g.6356475_6356476del , CM000679.1:g.6356475_6356476del GRCh37
NC_000017.9:g.6297199_6297200del NCBI36
NG_016020.1:g.108403_108404del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262483.13:c.*2183_*2184del MANE Select ENSP00000262483.8:n.*2183_*2184del
ENST00000262483.12:c.*2183_*2184del ENSP00000262483.8:n.*2183_*2184del
ENST00000421306.7:c.*2183_*2184del ENSP00000407882.3:n.*2183_*2184del
NM_001165966.1:c.*2183_*2184del NP_001159438.1:n.*2183_*2184del
NM_031220.3:c.*2183_*2184del NP_112497.2:n.*2183_*2184del
XM_011524014.1:c.2620-2728_2620-2727del XP_011522316.1:n.2620-2728_2620-2727del
NM_031220.4:c.*2183_*2184del MANE Select NP_112497.2:n.*2183_*2184del
NM_001165966.2:c.*2183_*2184del NP_001159438.1:n.*2183_*2184del
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