Canonical Allele Identifier: CA2689246014

Gene: KCNV2 PUM3

Linked Data

• gnomAD v4: 9-2729793-CATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729796_2729798del , CM000671.2:g.2729796_2729798del	GRCh38
NC_000009.11:g.2729796_2729798del , CM000671.1:g.2729796_2729798del	GRCh37
NC_000009.10:g.2719796_2719798del	NCBI36
NG_012181.1:g.17271_17273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*69_*71del (KCNV2) MANE Select	ENSP00000371514.3:n.*69_*71del
ENST00000382082.3:c.*69_*71del (KCNV2)	ENSP00000371514.3:n.*69_*71del
ENST00000490444.2:c.277-9264_277-9262del (PUM3)	ENSP00000474467.1:n.277-9264_277-9262del
NM_133497.3:c.*69_*71del (KCNV2)	NP_598004.1:n.*69_*71del
NM_133497.4:c.*69_*71del (KCNV2) MANE Select	NP_598004.1:n.*69_*71del