Canonical Allele Identifier: CA2689246201
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

gnomAD v4: 9-2729892-TCAGA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729893_2729896del , CM000671.2:g.2729893_2729896del GRCh38
NC_000009.11:g.2729893_2729896del , CM000671.1:g.2729893_2729896del GRCh37
NC_000009.10:g.2719893_2719896del NCBI36
NG_012181.1:g.17368_17371del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*166_*169del (KCNV2) MANE Select ENSP00000371514.3:n.*166_*169del
ENST00000382082.3:c.*166_*169del (KCNV2) ENSP00000371514.3:n.*166_*169del
ENST00000490444.2:c.277-9364_277-9361del (PUM3) ENSP00000474467.1:n.277-9364_277-9361del
NM_133497.3:c.*166_*169del (KCNV2) NP_598004.1:n.*166_*169del
NM_133497.4:c.*166_*169del (KCNV2) MANE Select NP_598004.1:n.*166_*169del
Search 100 bp 5'
Search 100 bp 3'