Canonical Allele Identifier: CA1433660421

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2101369C>G , CM000666.2:g.2101369C>G GRCh38
NC_000004.11:g.2103096C>G , CM000666.1:g.2103096C>G GRCh37
NC_000004.10:g.2072894C>G NCBI36
NG_046934.1:g.145796G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000672725.1:c.*303-5436G>C (HAUS3) ENSP00000500518.1:n.*303-5436G>C
ENST00000672739.1:c.*2134-5436G>C (HAUS3) ENSP00000500512.1:n.*2134-5436G>C
ENST00000382865.5:c.1983-5436G>C (POLN) ENSP00000372316.1:n.1983-5436G>C
ENST00000511098.1:c.881-5436G>C (POLN)
ENST00000511885.6:c.1983-5436G>C (POLN) MANE Select ENSP00000435506.1:n.1983-5436G>C
ENST00000514858.5:n.990-5436G>C (POLN)
NM_181808.3:c.1983-5436G>C (POLN) NP_861524.2:n.1983-5436G>C
NM_181808.4:c.1983-5436G>C (POLN) MANE Select NP_861524.2:n.1983-5436G>C