Canonical Allele Identifier: CA862771742
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs1435348976
gnomAD v3: 9-2729838-AG-A
gnomAD v4: 9-2729838-AG-A
MyVariant Identifiers: chr9:g.2729839del (hg19) chr9:g.2729839del (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*113del (KCNV2) MANE Select ENSP00000371514.3:n.*113del
ENST00000382082.3:c.*113del (KCNV2) ENSP00000371514.3:n.*113del
ENST00000490444.2:c.277-9307del (PUM3) ENSP00000474467.1:n.277-9307del
NM_133497.3:c.*113del (KCNV2) NP_598004.1:n.*113del
NM_133497.4:c.*113del (KCNV2) MANE Select NP_598004.1:n.*113del
Search 100 bp 5'
Search 100 bp 3'