Canonical Allele Identifier: CA2578627780
Gene: POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43520216_43520219del , CM000668.2:g.43520216_43520219del GRCh38
NC_000006.11:g.43487954_43487957del , CM000668.1:g.43487954_43487957del GRCh37
NC_000006.10:g.43595932_43595935del NCBI36
NG_028283.1:g.8178_8181del
NG_028283.3:g.15515_15518del

Transcript Alleles

HGVS Amino-acid Change
ENST00000607635.2:c.502+31_502+34del ENSP00000496683.1:n.502+31_502+34del
ENST00000642195.1:c.502+31_502+34del MANE Select ENSP00000496044.1:n.502+31_502+34del
ENST00000643341.1:c.502+31_502+34del ENSP00000496018.1:n.502+31_502+34del
ENST00000643799.1:c.502+31_502+34del ENSP00000494529.1:n.502+31_502+34del
ENST00000645141.1:c.*113+31_*113+34del ENSP00000496755.1:n.*113+31_*113+34del
ENST00000646188.1:c.337+31_337+34del ENSP00000496001.1:n.337+31_337+34del
ENST00000646433.1:c.502+31_502+34del ENSP00000494368.1:n.502+31_502+34del
ENST00000646700.1:c.502+31_502+34del ENSP00000495521.1:n.502+31_502+34del
ENST00000304004.7:c.502+31_502+34del ENSP00000307212.3:n.502+31_502+34del
ENST00000372344.6:c.502+31_502+34del ENSP00000361419.2:n.502+31_502+34del
ENST00000372389.7:c.502+31_502+34del ENSP00000361465.3:n.502+31_502+34del
ENST00000423780.1:c.381-59_381-56del
ENST00000428025.6:c.337+31_337+34del ENSP00000395401.2:n.337+31_337+34del
ENST00000455605.2:n.737_740del
ENST00000481352.6:n.816_819del
ENST00000488601.6:n.741+31_741+34del
NM_203290.2:c.502+31_502+34del NP_976035.1:n.502+31_502+34del
XM_005249491.1:c.502+31_502+34del XP_005249548.1:n.502+31_502+34del
XM_011515000.1:c.502+31_502+34del XP_011513302.1:n.502+31_502+34del
NM_001318876.1:c.502+31_502+34del NP_001305805.1:n.502+31_502+34del
NM_001363658.1:c.502+31_502+34del NP_001350587.1:n.502+31_502+34del
NM_203290.3:c.502+31_502+34del NP_976035.1:n.502+31_502+34del
NM_203290.4:c.502+31_502+34del MANE Select NP_976035.1:n.502+31_502+34del
NM_001363658.2:c.502+31_502+34del NP_001350587.1:n.502+31_502+34del
NM_001318876.2:c.502+31_502+34del NP_001305805.1:n.502+31_502+34del