Canonical Allele Identifier: CA585930536
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI

Linked Data

dbSNP Id: rs1448446573
gnomAD v2: 9-2729385-CCTTT-C
gnomAD v3: 9-2729385-CCTTT-C
gnomAD v4: 9-2729385-CCTTT-C
MyVariant Identifiers: chr9:g.2729386_2729389del (hg19) chr9:g.2729386_2729389del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729389_2729392del , CM000671.2:g.2729389_2729392del GRCh38
NC_000009.11:g.2729389_2729392del , CM000671.1:g.2729389_2729392del GRCh37
NC_000009.10:g.2719389_2719392del NCBI36
NG_012181.1:g.16864_16867del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1357-57_1357-54del (KCNV2) MANE Select ENSP00000371514.3:n.1357-57_1357-54del
ENST00000382082.3:c.1357-57_1357-54del (KCNV2) ENSP00000371514.3:n.1357-57_1357-54del
ENST00000490444.2:c.277-8857_277-8854del (PUM3) ENSP00000474467.1:n.277-8857_277-8854del
NM_133497.3:c.1357-57_1357-54del (KCNV2) NP_598004.1:n.1357-57_1357-54del
XR_929202.1:n.2002-57_2002-54del (KCNV2)
XR_929203.1:n.2365_2368del (KCNV2)
NM_133497.4:c.1357-57_1357-54del (KCNV2) MANE Select NP_598004.1:n.1357-57_1357-54del
Search 100 bp 5'
Search 100 bp 3'