Canonical Allele Identifier: CA4965961
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs763257710
ExAC: 9:2729736 AG / A
gnomAD v2: 9-2729736-AG-A
gnomAD v3: 9-2729736-AG-A
gnomAD v4: 9-2729736-AG-A
MyVariant Identifiers: chr9:g.2729737del (hg19) chr9:g.2729737del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729738del , CM000671.2:g.2729738del GRCh38
NC_000009.11:g.2729738del , CM000671.1:g.2729738del GRCh37
NC_000009.10:g.2719738del NCBI36
NG_012181.1:g.17213del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*11del (KCNV2) MANE Select ENSP00000371514.3:n.*11del
ENST00000382082.3:c.*11del (KCNV2) ENSP00000371514.3:n.*11del
ENST00000490444.2:c.277-9205del (PUM3) ENSP00000474467.1:n.277-9205del
NM_133497.3:c.*11del (KCNV2) NP_598004.1:n.*11del
NM_133497.4:c.*11del (KCNV2) MANE Select NP_598004.1:n.*11del
Search 100 bp 5'
Search 100 bp 3'