Canonical Allele Identifier: CA2782685192

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729891_2729892insACACCCAAC , CM000671.2:g.2729891_2729892insACACCCAAC GRCh38
NC_000009.11:g.2729891_2729892insACACCCAAC , CM000671.1:g.2729891_2729892insACACCCAAC GRCh37
NC_000009.10:g.2719891_2719892insACACCCAAC NCBI36
NG_012181.1:g.17366_17367insACACCCAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.*164_*165insACACCCAAC (KCNV2) MANE Select ENSP00000371514.3:n.*164_*165insACACCCAAC
ENST00000382082.3:c.*164_*165insACACCCAAC (KCNV2) ENSP00000371514.3:n.*164_*165insACACCCAAC
ENST00000490444.2:c.277-9357_277-9356insGGGTGTGTT (PUM3) ENSP00000474467.1:n.277-9357_277-9356insGGGTGTGTT
NM_133497.3:c.*164_*165insACACCCAAC (KCNV2) NP_598004.1:n.*164_*165insACACCCAAC
NM_133497.4:c.*164_*165insACACCCAAC (KCNV2) MANE Select NP_598004.1:n.*164_*165insACACCCAAC