Canonical Allele Identifier: CA2782685172

Gene: KCNV2 PUM3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729298_2729369del , CM000671.2:g.2729298_2729369del	GRCh38
NC_000009.11:g.2729298_2729369del , CM000671.1:g.2729298_2729369del	GRCh37
NC_000009.10:g.2719298_2719369del	NCBI36
NG_012181.1:g.16773_16844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1357-148_1357-77del (KCNV2) MANE Select	ENSP00000371514.3:n.1357-148_1357-77del
ENST00000382082.3:c.1357-148_1357-77del (KCNV2)	ENSP00000371514.3:n.1357-148_1357-77del
ENST00000490444.2:c.277-8832_277-8761del (PUM3)	ENSP00000474467.1:n.277-8832_277-8761del
NM_133497.3:c.1357-148_1357-77del (KCNV2)	NP_598004.1:n.1357-148_1357-77del
XR_929202.1:n.2002-148_2002-77del (KCNV2)
XR_929203.1:n.2274_2345del (KCNV2)
NM_133497.4:c.1357-148_1357-77del (KCNV2) MANE Select	NP_598004.1:n.1357-148_1357-77del