Canonical Allele Identifier: CA2782685189
Gene: KCNV2 HGNC NCBI
PUM3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729866_2729867insACAT , CM000671.2:g.2729866_2729867insACAT GRCh38
NC_000009.11:g.2729866_2729867insACAT , CM000671.1:g.2729866_2729867insACAT GRCh37
NC_000009.10:g.2719866_2719867insACAT NCBI36
NG_012181.1:g.17341_17342insACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*139_*140insACAT (KCNV2) MANE Select ENSP00000371514.3:n.*139_*140insACAT
ENST00000382082.3:c.*139_*140insACAT (KCNV2) ENSP00000371514.3:n.*139_*140insACAT
ENST00000490444.2:c.277-9335_277-9334insATGT (PUM3) ENSP00000474467.1:n.277-9335_277-9334insATGT
NM_133497.3:c.*139_*140insACAT (KCNV2) NP_598004.1:n.*139_*140insACAT
NM_133497.4:c.*139_*140insACAT (KCNV2) MANE Select NP_598004.1:n.*139_*140insACAT
Search 100 bp 5'
Search 100 bp 3'