Canonical Allele Identifier: CA2689246049
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

gnomAD v4: 9-2729818-T-TC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729818_2729819insC , CM000671.2:g.2729818_2729819insC GRCh38
NC_000009.11:g.2729818_2729819insC , CM000671.1:g.2729818_2729819insC GRCh37
NC_000009.10:g.2719818_2719819insC NCBI36
NG_012181.1:g.17293_17294insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*91_*92insC (KCNV2) MANE Select ENSP00000371514.3:n.*91_*92insC
ENST00000382082.3:c.*91_*92insC (KCNV2) ENSP00000371514.3:n.*91_*92insC
ENST00000490444.2:c.277-9287_277-9286insG (PUM3) ENSP00000474467.1:n.277-9287_277-9286insG
NM_133497.3:c.*91_*92insC (KCNV2) NP_598004.1:n.*91_*92insC
NM_133497.4:c.*91_*92insC (KCNV2) MANE Select NP_598004.1:n.*91_*92insC
Search 100 bp 5'
Search 100 bp 3'