Canonical Allele Identifier: CA2689245767

Gene: KCNV2 PUM3

Linked Data

• gnomAD v4: 9-2729681-GTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729682_2729684del , CM000671.2:g.2729682_2729684del	GRCh38
NC_000009.11:g.2729682_2729684del , CM000671.1:g.2729682_2729684del	GRCh37
NC_000009.10:g.2719682_2719684del	NCBI36
NG_012181.1:g.17157_17159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1593_1595del (KCNV2) MANE Select	ENSP00000371514.3:p.Cys531_Leu532delinsTrp
ENST00000382082.3:c.1593_1595del (KCNV2)	ENSP00000371514.3:p.Cys531_Leu532delinsTrp
ENST00000490444.2:c.277-9152_277-9150del (PUM3)	ENSP00000474467.1:n.277-9152_277-9150del
NM_133497.3:c.1593_1595del (KCNV2)	NP_598004.1:p.Cys531_Leu532delinsTrp
NM_133497.4:c.1593_1595del (KCNV2) MANE Select	NP_598004.1:p.Cys531_Leu532delinsTrp