Canonical Allele Identifier: CA2782685194

Gene: KCNV2 PUM3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729905_2729906del , CM000671.2:g.2729905_2729906del	GRCh38
NC_000009.11:g.2729905_2729906del , CM000671.1:g.2729905_2729906del	GRCh37
NC_000009.10:g.2719905_2719906del	NCBI36
NG_012181.1:g.17380_17381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*178_*179del (KCNV2) MANE Select	ENSP00000371514.3:n.*178_*179del
ENST00000382082.3:c.*178_*179del (KCNV2)	ENSP00000371514.3:n.*178_*179del
ENST00000490444.2:c.277-9373_277-9372del (PUM3)	ENSP00000474467.1:n.277-9373_277-9372del
NM_133497.3:c.*178_*179del (KCNV2)	NP_598004.1:n.*178_*179del
NM_133497.4:c.*178_*179del (KCNV2) MANE Select	NP_598004.1:n.*178_*179del