Canonical Allele Identifier: CA2689245838

Gene: KCNV2 PUM3

Linked Data

• gnomAD v4: 9-2729710-CCAAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729716_2729720del , CM000671.2:g.2729716_2729720del	GRCh38
NC_000009.11:g.2729716_2729720del , CM000671.1:g.2729716_2729720del	GRCh37
NC_000009.10:g.2719716_2719720del	NCBI36
NG_012181.1:g.17191_17195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1627_1631del (KCNV2) MANE Select	ENSP00000371514.3:p.Gln543GlufsTer11
ENST00000382082.3:c.1627_1631del (KCNV2)	ENSP00000371514.3:p.Gln543GlufsTer11
ENST00000490444.2:c.277-9183_277-9179del (PUM3)	ENSP00000474467.1:n.277-9183_277-9179del
NM_133497.3:c.1627_1631del (KCNV2)	NP_598004.1:p.Gln543GlufsTer11
NM_133497.4:c.1627_1631del (KCNV2) MANE Select	NP_598004.1:p.Gln543GlufsTer11