Canonical Allele Identifier: CA1258761035

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68653108_68653110delinsCAG , CM000664.2:g.68653108_68653110delinsCAG GRCh38
NC_000002.11:g.68880240_68880242delinsCAG , CM000664.1:g.68880240_68880242delinsCAG GRCh37
NC_000002.10:g.68733744_68733746delinsCAG NCBI36
NG_051312.1:g.14521_14523delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000303786.5:c.486-1772_486-1770delinsCAG (PROKR1) MANE Select ENSP00000303775.4:n.486-1772_486-1770delinsCAG
ENST00000303786.4:c.486-1772_486-1770delinsCAG (PROKR1) ENSP00000303775.3:n.486-1772_486-1770delinsCAG
ENST00000394342.2:c.486-1772_486-1770delinsCAG (APLF) ENSP00000377874.2:n.486-1772_486-1770delinsCAG
ENST00000627740.1:n.1198-1772_1198-1770delinsCAG (APLF)
NM_138964.2:c.486-1772_486-1770delinsCAG (PROKR1) NP_620414.1:n.486-1772_486-1770delinsCAG
NM_138964.3:c.486-1772_486-1770delinsCAG (PROKR1) NP_620414.1:n.486-1772_486-1770delinsCAG
NM_138964.4:c.486-1772_486-1770delinsCAG (PROKR1) MANE Select NP_620414.1:n.486-1772_486-1770delinsCAG