Canonical Allele Identifier: CA1828293639
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs1820040896
gnomAD v4: 9-2729913-CTGTGT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729919_2729923del , CM000671.2:g.2729919_2729923del GRCh38
NC_000009.11:g.2729919_2729923del , CM000671.1:g.2729919_2729923del GRCh37
NC_000009.10:g.2719919_2719923del NCBI36
NG_012181.1:g.17394_17398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*192_*196del (KCNV2) MANE Select ENSP00000371514.3:n.*192_*196del
ENST00000382082.3:c.*192_*196del (KCNV2) ENSP00000371514.3:n.*192_*196del
ENST00000490444.2:c.277-9386_277-9382del (PUM3) ENSP00000474467.1:n.277-9386_277-9382del
NM_133497.3:c.*192_*196del (KCNV2) NP_598004.1:n.*192_*196del
NM_133497.4:c.*192_*196del (KCNV2) MANE Select NP_598004.1:n.*192_*196del
Search 100 bp 5'
Search 100 bp 3'