Canonical Allele Identifier: CA10649879

Gene: PITPNM3

Linked Data

• ClinVar Variation Id: 324666
• ClinVar RCV Id: RCV000276041
• dbSNP Id: rs200905881
• gnomAD v2: 17-6355201-C-CA
• gnomAD v3: 17-6451881-C-CA
• gnomAD v4: 17-6451881-C-CA
• MyVariant Identifiers: chr17:g.6355201_6355202insA (hg19) ; chr17:g.6451881_6451882insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6451881_6451882insA , CM000679.2:g.6451881_6451882insA	GRCh38
NC_000017.10:g.6355201_6355202insA , CM000679.1:g.6355201_6355202insA	GRCh37
NC_000017.9:g.6295925_6295926insA	NCBI36
NG_016020.1:g.109676_109677insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262483.13:c.*3456_*3457insT MANE Select	ENSP00000262483.8:n.*3456_*3457insT
ENST00000262483.12:c.*3456_*3457insT	ENSP00000262483.8:n.*3456_*3457insT
ENST00000421306.7:c.*3456_*3457insT	ENSP00000407882.3:n.*3456_*3457insT
NM_001165966.1:c.*3456_*3457insT	NP_001159438.1:n.*3456_*3457insT
NM_031220.3:c.*3456_*3457insT	NP_112497.2:n.*3456_*3457insT
XM_011524014.1:c.2620-1455_2620-1454insT	XP_011522316.1:n.2620-1455_2620-1454insT
NM_031220.4:c.*3456_*3457insT MANE Select	NP_112497.2:n.*3456_*3457insT
NM_001165966.2:c.*3456_*3457insT	NP_001159438.1:n.*3456_*3457insT