Canonical Allele Identifier: CA10646527
Gene: PITPNM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 324698
ClinVar RCV Id: RCV000384762
dbSNP Id: rs796340486
gnomAD v2: 17-6356297-CCTCT-C
gnomAD v3: 17-6452977-CCTCT-C
gnomAD v4: 17-6452977-CCTCT-C
MyVariant Identifiers: chr17:g.6356298_6356301del (hg19) chr17:g.6356310_6356327delinsGTCTTCCTTTCTCT (hg19) chr17:g.6452978_6452981del (hg38) chr17:g.6452990_6453007delinsGTCTTCCTTTCTCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6452990_6452993del , CM000679.2:g.6452990_6452993del GRCh38
NC_000017.10:g.6356310_6356313del , CM000679.1:g.6356310_6356313del GRCh37
NC_000017.9:g.6297034_6297037del NCBI36
NG_016020.1:g.108577_108580del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262483.13:c.*2357_*2360del MANE Select ENSP00000262483.8:n.*2357_*2360del
ENST00000262483.12:c.*2357_*2360del ENSP00000262483.8:n.*2357_*2360del
ENST00000421306.7:c.*2357_*2360del ENSP00000407882.3:n.*2357_*2360del
NM_001165966.1:c.*2357_*2360del NP_001159438.1:n.*2357_*2360del
NM_031220.3:c.*2357_*2360del NP_112497.2:n.*2357_*2360del
XM_011524014.1:c.2620-2554_2620-2551del XP_011522316.1:n.2620-2554_2620-2551del
NM_031220.4:c.*2357_*2360del MANE Select NP_112497.2:n.*2357_*2360del
NM_001165966.2:c.*2357_*2360del NP_001159438.1:n.*2357_*2360del
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