Canonical Allele Identifier: CA2814550839
Gene: POLR1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45406887_45406890dup , CM000681.2:g.45406887_45406890dup GRCh38
NC_000019.9:g.45910145_45910148dup , CM000681.1:g.45910145_45910148dup GRCh37
NC_000019.8:g.50601985_50601988dup NCBI36
NG_015839.2:g.76941_76944dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.22+169_22+172dup MANE Select ENSP00000310966.3:n.22+169_22+172dup
ENST00000309424.7:c.22+169_22+172dup ENSP00000310966.3:n.22+169_22+172dup
ENST00000589804.1:c.28+163_28+166dup ENSP00000465099.1:n.28+163_28+166dup
ENST00000590794.1:c.20+169_20+172dup
ENST00000592852.1:c.-719_-716dup ENSP00000467771.1:n.-719_-716dup
NM_001297590.1:c.28+163_28+166dup NP_001284519.1:n.28+163_28+166dup
NM_012099.1:c.22+169_22+172dup NP_036231.1:n.22+169_22+172dup
NM_001297590.2:c.28+163_28+166dup NP_001284519.1:n.28+163_28+166dup
NM_012099.2:c.22+169_22+172dup NP_036231.1:n.22+169_22+172dup
NM_001297590.3:c.28+163_28+166dup NP_001284519.1:n.28+163_28+166dup
NM_012099.3:c.22+169_22+172dup MANE Select NP_036231.1:n.22+169_22+172dup