Canonical Allele Identifier: CA2689246176
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

gnomAD v4: 9-2729880-T-TCTCTTGTC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729880_2729881insCTCTTGTC , CM000671.2:g.2729880_2729881insCTCTTGTC GRCh38
NC_000009.11:g.2729880_2729881insCTCTTGTC , CM000671.1:g.2729880_2729881insCTCTTGTC GRCh37
NC_000009.10:g.2719880_2719881insCTCTTGTC NCBI36
NG_012181.1:g.17355_17356insCTCTTGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*153_*154insCTCTTGTC (KCNV2) MANE Select ENSP00000371514.3:n.*153_*154insCTCTTGTC
ENST00000382082.3:c.*153_*154insCTCTTGTC (KCNV2) ENSP00000371514.3:n.*153_*154insCTCTTGTC
ENST00000490444.2:c.277-9349_277-9348insGACAAGAG (PUM3) ENSP00000474467.1:n.277-9349_277-9348insGACAAGAG
NM_133497.3:c.*153_*154insCTCTTGTC (KCNV2) NP_598004.1:n.*153_*154insCTCTTGTC
NM_133497.4:c.*153_*154insCTCTTGTC (KCNV2) MANE Select NP_598004.1:n.*153_*154insCTCTTGTC
Search 100 bp 5'
Search 100 bp 3'