Canonical Allele Identifier: CA2545931895

Gene: KCNV2 PUM3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729338_2729342del , CM000671.2:g.2729338_2729342del	GRCh38
NC_000009.11:g.2729338_2729342del , CM000671.1:g.2729338_2729342del	GRCh37
NC_000009.10:g.2719338_2719342del	NCBI36
NG_012181.1:g.16813_16817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1357-108_1357-104del (KCNV2) MANE Select	ENSP00000371514.3:n.1357-108_1357-104del
ENST00000382082.3:c.1357-108_1357-104del (KCNV2)	ENSP00000371514.3:n.1357-108_1357-104del
ENST00000490444.2:c.277-8809_277-8805del (PUM3)	ENSP00000474467.1:n.277-8809_277-8805del
NM_133497.3:c.1357-108_1357-104del (KCNV2)	NP_598004.1:n.1357-108_1357-104del
XR_929202.1:n.2002-108_2002-104del (KCNV2)
XR_929203.1:n.2314_2318del (KCNV2)
NM_133497.4:c.1357-108_1357-104del (KCNV2) MANE Select	NP_598004.1:n.1357-108_1357-104del