Canonical Allele Identifier: CA2678869145

Gene: POLR1C

Linked Data

• gnomAD v4: 6-43519906-G-GTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43519908_43519943dup , CM000668.2:g.43519908_43519943dup	GRCh38
NC_000006.11:g.43487646_43487681dup , CM000668.1:g.43487646_43487681dup	GRCh37
NC_000006.10:g.43595624_43595659dup	NCBI36
NG_028283.1:g.7870_7905dup
NG_028283.3:g.15207_15242dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.382+70_382+105dup	ENSP00000496683.1:n.382+70_382+105dup
ENST00000642195.1:c.382+70_382+105dup MANE Select	ENSP00000496044.1:n.382+70_382+105dup
ENST00000643341.1:c.382+70_382+105dup	ENSP00000496018.1:n.382+70_382+105dup
ENST00000643799.1:c.382+70_382+105dup	ENSP00000494529.1:n.382+70_382+105dup
ENST00000645141.1:c.449+3_449+38dup	ENSP00000496755.1:n.449+3_449+38dup
ENST00000646188.1:c.217+70_217+105dup	ENSP00000496001.1:n.217+70_217+105dup
ENST00000646433.1:c.382+70_382+105dup	ENSP00000494368.1:n.382+70_382+105dup
ENST00000646700.1:c.382+70_382+105dup	ENSP00000495521.1:n.382+70_382+105dup
ENST00000304004.7:c.382+70_382+105dup	ENSP00000307212.3:n.382+70_382+105dup
ENST00000372344.6:c.382+70_382+105dup	ENSP00000361419.2:n.382+70_382+105dup
ENST00000372389.7:c.382+70_382+105dup	ENSP00000361465.3:n.382+70_382+105dup
ENST00000423780.1:c.380+70_380+105dup
ENST00000428025.6:c.217+70_217+105dup	ENSP00000395401.2:n.217+70_217+105dup
ENST00000455605.2:n.429_464dup
ENST00000481352.6:n.508_543dup
ENST00000488601.6:n.464_499dup
NM_203290.2:c.382+70_382+105dup	NP_976035.1:n.382+70_382+105dup
XM_005249491.1:c.382+70_382+105dup	XP_005249548.1:n.382+70_382+105dup
XM_011515000.1:c.382+70_382+105dup	XP_011513302.1:n.382+70_382+105dup
NM_001318876.1:c.382+70_382+105dup	NP_001305805.1:n.382+70_382+105dup
NM_001363658.1:c.382+70_382+105dup	NP_001350587.1:n.382+70_382+105dup
NM_203290.3:c.382+70_382+105dup	NP_976035.1:n.382+70_382+105dup
NM_203290.4:c.382+70_382+105dup MANE Select	NP_976035.1:n.382+70_382+105dup
NM_001363658.2:c.382+70_382+105dup	NP_001350587.1:n.382+70_382+105dup
NM_001318876.2:c.382+70_382+105dup	NP_001305805.1:n.382+70_382+105dup