Canonical Allele Identifier: CA2689246004

Gene: KCNV2 PUM3

Linked Data

• gnomAD v4: 9-2729780-CTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729782_2729785del , CM000671.2:g.2729782_2729785del	GRCh38
NC_000009.11:g.2729782_2729785del , CM000671.1:g.2729782_2729785del	GRCh37
NC_000009.10:g.2719782_2719785del	NCBI36
NG_012181.1:g.17257_17260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*55_*58del (KCNV2) MANE Select	ENSP00000371514.3:n.*55_*58del
ENST00000382082.3:c.*55_*58del (KCNV2)	ENSP00000371514.3:n.*55_*58del
ENST00000490444.2:c.277-9252_277-9249del (PUM3)	ENSP00000474467.1:n.277-9252_277-9249del
NM_133497.3:c.*55_*58del (KCNV2)	NP_598004.1:n.*55_*58del
NM_133497.4:c.*55_*58del (KCNV2) MANE Select	NP_598004.1:n.*55_*58del