Canonical Allele Identifier: CA1828292341

Gene: KCNV2 PUM3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729077_2729081delinsTAGGG , CM000671.2:g.2729077_2729081delinsTAGGG	GRCh38
NC_000009.11:g.2729077_2729081delinsTAGGG , CM000671.1:g.2729077_2729081delinsTAGGG	GRCh37
NC_000009.10:g.2719077_2719081delinsTAGGG	NCBI36
NG_012181.1:g.16552_16556delinsTAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1357-369_1357-365delinsTAGGG (KCNV2) MANE Select	ENSP00000371514.3:n.1357-369_1357-365delinsTAGGG
ENST00000382082.3:c.1357-369_1357-365delinsTAGGG (KCNV2)	ENSP00000371514.3:n.1357-369_1357-365delinsTAGGG
ENST00000490444.2:c.277-8549_277-8545delinsCCCTA (PUM3)	ENSP00000474467.1:n.277-8549_277-8545delinsCCCTA
NM_133497.3:c.1357-369_1357-365delinsTAGGG (KCNV2)	NP_598004.1:n.1357-369_1357-365delinsTAGGG
XR_929202.1:n.2002-369_2002-365delinsTAGGG (KCNV2)
XR_929203.1:n.2053_2057delinsTAGGG (KCNV2)
NM_133497.4:c.1357-369_1357-365delinsTAGGG (KCNV2) MANE Select	NP_598004.1:n.1357-369_1357-365delinsTAGGG