Canonical Allele Identifier: CA1828292361

Gene: KCNV2 PUM3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729101_2729117delinsAGCACGTTCTACATCAG , CM000671.2:g.2729101_2729117delinsAGCACGTTCTACATCAG	GRCh38
NC_000009.11:g.2729101_2729117delinsAGCACGTTCTACATCAG , CM000671.1:g.2729101_2729117delinsAGCACGTTCTACATCAG	GRCh37
NC_000009.10:g.2719101_2719117delinsAGCACGTTCTACATCAG	NCBI36
NG_012181.1:g.16576_16592delinsAGCACGTTCTACATCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1357-345_1357-329delinsAGCACGTTCTACATCAG (KCNV2) MANE Select	ENSP00000371514.3:n.1357-345_1357-329delinsAGCACGTTCTACATCAG
ENST00000382082.3:c.1357-345_1357-329delinsAGCACGTTCTACATCAG (KCNV2)	ENSP00000371514.3:n.1357-345_1357-329delinsAGCACGTTCTACATCAG
ENST00000490444.2:c.277-8585_277-8569delinsCTGATGTAGAACGTGCT (PUM3)	ENSP00000474467.1:n.277-8585_277-8569delinsCTGATGTAGAACGTGCT
NM_133497.3:c.1357-345_1357-329delinsAGCACGTTCTACATCAG (KCNV2)	NP_598004.1:n.1357-345_1357-329delinsAGCACGTTCTACATCAG
XR_929202.1:n.2002-345_2002-329delinsAGCACGTTCTACATCAG (KCNV2)
XR_929203.1:n.2077_2093delinsAGCACGTTCTACATCAG (KCNV2)
NM_133497.4:c.1357-345_1357-329delinsAGCACGTTCTACATCAG (KCNV2) MANE Select	NP_598004.1:n.1357-345_1357-329delinsAGCACGTTCTACATCAG