Canonical Allele Identifier: CA1828292485

Gene: KCNV2 PUM3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729231_2729233delinsCAA , CM000671.2:g.2729231_2729233delinsCAA	GRCh38
NC_000009.11:g.2729231_2729233delinsCAA , CM000671.1:g.2729231_2729233delinsCAA	GRCh37
NC_000009.10:g.2719231_2719233delinsCAA	NCBI36
NG_012181.1:g.16706_16708delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1357-215_1357-213delinsCAA (KCNV2) MANE Select	ENSP00000371514.3:n.1357-215_1357-213delinsCAA
ENST00000382082.3:c.1357-215_1357-213delinsCAA (KCNV2)	ENSP00000371514.3:n.1357-215_1357-213delinsCAA
ENST00000490444.2:c.277-8701_277-8699delinsTTG (PUM3)	ENSP00000474467.1:n.277-8701_277-8699delinsTTG
NM_133497.3:c.1357-215_1357-213delinsCAA (KCNV2)	NP_598004.1:n.1357-215_1357-213delinsCAA
XR_929202.1:n.2002-215_2002-213delinsCAA (KCNV2)
XR_929203.1:n.2207_2209delinsCAA (KCNV2)
NM_133497.4:c.1357-215_1357-213delinsCAA (KCNV2) MANE Select	NP_598004.1:n.1357-215_1357-213delinsCAA