Canonical Allele Identifier: CA2678869160

Gene: POLR1C

Linked Data

• gnomAD v4: 6-43519934-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43519935del , CM000668.2:g.43519935del	GRCh38
NC_000006.11:g.43487673del , CM000668.1:g.43487673del	GRCh37
NC_000006.10:g.43595651del	NCBI36
NG_028283.1:g.7897del
NG_028283.3:g.15234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.382+97del	ENSP00000496683.1:n.382+97del
ENST00000642195.1:c.382+97del MANE Select	ENSP00000496044.1:n.382+97del
ENST00000643341.1:c.382+97del	ENSP00000496018.1:n.382+97del
ENST00000643799.1:c.382+97del	ENSP00000494529.1:n.382+97del
ENST00000645141.1:c.449+30del	ENSP00000496755.1:n.449+30del
ENST00000646188.1:c.217+97del	ENSP00000496001.1:n.217+97del
ENST00000646433.1:c.382+97del	ENSP00000494368.1:n.382+97del
ENST00000646700.1:c.382+97del	ENSP00000495521.1:n.382+97del
ENST00000304004.7:c.382+97del	ENSP00000307212.3:n.382+97del
ENST00000372344.6:c.382+97del	ENSP00000361419.2:n.382+97del
ENST00000372389.7:c.382+97del	ENSP00000361465.3:n.382+97del
ENST00000423780.1:c.380+97del
ENST00000428025.6:c.217+97del	ENSP00000395401.2:n.217+97del
ENST00000455605.2:n.456del
ENST00000481352.6:n.535del
ENST00000488601.6:n.491del
NM_203290.2:c.382+97del	NP_976035.1:n.382+97del
XM_005249491.1:c.382+97del	XP_005249548.1:n.382+97del
XM_011515000.1:c.382+97del	XP_011513302.1:n.382+97del
NM_001318876.1:c.382+97del	NP_001305805.1:n.382+97del
NM_001363658.1:c.382+97del	NP_001350587.1:n.382+97del
NM_203290.3:c.382+97del	NP_976035.1:n.382+97del
NM_203290.4:c.382+97del MANE Select	NP_976035.1:n.382+97del
NM_001363658.2:c.382+97del	NP_001350587.1:n.382+97del
NM_001318876.2:c.382+97del	NP_001305805.1:n.382+97del