Canonical Allele Identifier: CA2578627693

Gene: POLR1C

Linked Data

• gnomAD v4: 6-43519884-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43519886del , CM000668.2:g.43519886del	GRCh38
NC_000006.11:g.43487624del , CM000668.1:g.43487624del	GRCh37
NC_000006.10:g.43595602del	NCBI36
NG_028283.1:g.7848del
NG_028283.3:g.15185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.382+48del	ENSP00000496683.1:n.382+48del
ENST00000642195.1:c.382+48del MANE Select	ENSP00000496044.1:n.382+48del
ENST00000643341.1:c.382+48del	ENSP00000496018.1:n.382+48del
ENST00000643799.1:c.382+48del	ENSP00000494529.1:n.382+48del
ENST00000645141.1:c.430del	ENSP00000496755.1:p.Leu144TrpfsTer?
ENST00000646188.1:c.217+48del	ENSP00000496001.1:n.217+48del
ENST00000646433.1:c.382+48del	ENSP00000494368.1:n.382+48del
ENST00000646700.1:c.382+48del	ENSP00000495521.1:n.382+48del
ENST00000304004.7:c.382+48del	ENSP00000307212.3:n.382+48del
ENST00000372344.6:c.382+48del	ENSP00000361419.2:n.382+48del
ENST00000372389.7:c.382+48del	ENSP00000361465.3:n.382+48del
ENST00000423780.1:c.380+48del
ENST00000428025.6:c.217+48del	ENSP00000395401.2:n.217+48del
ENST00000455605.2:n.407del
ENST00000481352.6:n.486del
ENST00000488601.6:n.442del
NM_203290.2:c.382+48del	NP_976035.1:n.382+48del
XM_005249491.1:c.382+48del	XP_005249548.1:n.382+48del
XM_011515000.1:c.382+48del	XP_011513302.1:n.382+48del
NM_001318876.1:c.382+48del	NP_001305805.1:n.382+48del
NM_001363658.1:c.382+48del	NP_001350587.1:n.382+48del
NM_203290.3:c.382+48del	NP_976035.1:n.382+48del
NM_203290.4:c.382+48del MANE Select	NP_976035.1:n.382+48del
NM_001363658.2:c.382+48del	NP_001350587.1:n.382+48del
NM_001318876.2:c.382+48del	NP_001305805.1:n.382+48del