Canonical Allele Identifier: CA652887261
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

COSMIC: COSN19399570
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729840_2729857del , CM000671.2:g.2729840_2729857del GRCh38
NC_000009.11:g.2729840_2729857del , CM000671.1:g.2729840_2729857del GRCh37
NC_000009.10:g.2719840_2719857del NCBI36
NG_012181.1:g.17315_17332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*113_*130del (KCNV2) MANE Select ENSP00000371514.3:n.*113_*130del
ENST00000382082.3:c.*113_*130del (KCNV2) ENSP00000371514.3:n.*113_*130del
ENST00000490444.2:c.277-9318_277-9301del (PUM3) ENSP00000474467.1:n.277-9318_277-9301del
NM_133497.3:c.*113_*130del (KCNV2) NP_598004.1:n.*113_*130del
NM_133497.4:c.*113_*130del (KCNV2) MANE Select NP_598004.1:n.*113_*130del
Search 100 bp 5'
Search 100 bp 3'