Canonical Allele Identifier: CA2689245265

Gene: KCNV2 PUM3

Linked Data

• gnomAD v4: 9-2729300-GTACCTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729303_2729309del , CM000671.2:g.2729303_2729309del	GRCh38
NC_000009.11:g.2729303_2729309del , CM000671.1:g.2729303_2729309del	GRCh37
NC_000009.10:g.2719303_2719309del	NCBI36
NG_012181.1:g.16778_16784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1357-143_1357-137del (KCNV2) MANE Select	ENSP00000371514.3:n.1357-143_1357-137del
ENST00000382082.3:c.1357-143_1357-137del (KCNV2)	ENSP00000371514.3:n.1357-143_1357-137del
ENST00000490444.2:c.277-8775_277-8769del (PUM3)	ENSP00000474467.1:n.277-8775_277-8769del
NM_133497.3:c.1357-143_1357-137del (KCNV2)	NP_598004.1:n.1357-143_1357-137del
XR_929202.1:n.2002-143_2002-137del (KCNV2)
XR_929203.1:n.2279_2285del (KCNV2)
NM_133497.4:c.1357-143_1357-137del (KCNV2) MANE Select	NP_598004.1:n.1357-143_1357-137del