Canonical Allele Identifier: CA2523862563

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729345_2729346insGGAAG , CM000671.2:g.2729345_2729346insGGAAG GRCh38
NC_000009.11:g.2729345_2729346insGGAAG , CM000671.1:g.2729345_2729346insGGAAG GRCh37
NC_000009.10:g.2719345_2719346insGGAAG NCBI36
NG_012181.1:g.16820_16821insGGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1357-101_1357-100insGGAAG (KCNV2) MANE Select ENSP00000371514.3:n.1357-101_1357-100insGGAAG
ENST00000382082.3:c.1357-101_1357-100insGGAAG (KCNV2) ENSP00000371514.3:n.1357-101_1357-100insGGAAG
ENST00000490444.2:c.277-8813_277-8812insTTCCC (PUM3) ENSP00000474467.1:n.277-8813_277-8812insTTCCC
NM_133497.3:c.1357-101_1357-100insGGAAG (KCNV2) NP_598004.1:n.1357-101_1357-100insGGAAG
XR_929202.1:n.2002-101_2002-100insGGAAG (KCNV2)
XR_929203.1:n.2321_2322insGGAAG (KCNV2)
NM_133497.4:c.1357-101_1357-100insGGAAG (KCNV2) MANE Select NP_598004.1:n.1357-101_1357-100insGGAAG