Canonical Allele Identifier: CA1828293637

Gene: KCNV2 PUM3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729913_2729918delinsCTGTGT , CM000671.2:g.2729913_2729918delinsCTGTGT	GRCh38
NC_000009.11:g.2729913_2729918delinsCTGTGT , CM000671.1:g.2729913_2729918delinsCTGTGT	GRCh37
NC_000009.10:g.2719913_2719918delinsCTGTGT	NCBI36
NG_012181.1:g.17388_17393delinsCTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*186_*191delinsCTGTGT (KCNV2) MANE Select	ENSP00000371514.3:n.*186_*191delinsCTGTGT
ENST00000382082.3:c.*186_*191delinsCTGTGT (KCNV2)	ENSP00000371514.3:n.*186_*191delinsCTGTGT
ENST00000490444.2:c.277-9386_277-9381delinsACACAG (PUM3)	ENSP00000474467.1:n.277-9386_277-9381delinsACACAG
NM_133497.3:c.*186_*191delinsCTGTGT (KCNV2)	NP_598004.1:n.*186_*191delinsCTGTGT
NM_133497.4:c.*186_*191delinsCTGTGT (KCNV2) MANE Select	NP_598004.1:n.*186_*191delinsCTGTGT