Canonical Allele Identifier: CA567153001

Gene: POLR1C

Linked Data

• dbSNP Id: rs1340915904
• gnomAD v2: 6-43488397-AGCCAGTTACAGGCTCCT-A
• gnomAD v4: 6-43520659-AGCCAGTTACAGGCTCCT-A
• MyVariant Identifiers: chr6:g.43488398_43488414del (hg19) ; chr6:g.43520660_43520676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520665_43520681del , CM000668.2:g.43520665_43520681del	GRCh38
NC_000006.11:g.43488403_43488419del , CM000668.1:g.43488403_43488419del	GRCh37
NC_000006.10:g.43596381_43596397del	NCBI36
NG_028283.1:g.8627_8643del
NG_028283.3:g.15964_15980del
NG_051658.1:g.60400_60416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.696_712del	ENSP00000496683.1:p.Ser232ArgfsTer6
ENST00000642195.1:c.696_712del MANE Select	ENSP00000496044.1:p.Ser232ArgfsTer6
ENST00000643341.1:c.696_712del	ENSP00000496018.1:p.Ser232ArgfsTer6
ENST00000643799.1:c.655+238_656-251del	ENSP00000494529.1:n.655+238_656-251del
ENST00000645141.1:c.*307_*323del	ENSP00000496755.1:n.*307_*323del
ENST00000646188.1:c.531_547del	ENSP00000496001.1:p.Ser177ArgfsTer6
ENST00000646433.1:c.696_712del	ENSP00000494368.1:p.Ser232ArgfsTer6
ENST00000646700.1:c.696_712del	ENSP00000495521.1:p.Ser232ArgfsTer6
ENST00000304004.7:c.696_712del	ENSP00000307212.3:p.Ser232ArgfsTer6
ENST00000372344.6:c.655+238_656-251del	ENSP00000361419.2:n.655+238_656-251del
ENST00000372389.7:c.696_712del	ENSP00000361465.3:p.Ser232ArgfsTer6
ENST00000455605.2:n.1186_1202del
ENST00000481352.6:n.1068_1084del
ENST00000488601.6:n.935_951del
NM_203290.2:c.696_712del	NP_976035.1:p.Ser232ArgfsTer6
XM_005249491.1:c.696_712del	XP_005249548.1:p.Ser232ArgfsTer6
XM_011515000.1:c.696_712del	XP_011513302.1:p.Ser232ArgfsTer6
NM_001318876.1:c.696_712del	NP_001305805.1:p.Ser232ArgfsTer6
NM_001363658.1:c.696_712del	NP_001350587.1:p.Ser232ArgfsTer6
NM_203290.3:c.696_712del	NP_976035.1:p.Ser232ArgfsTer6
NM_203290.4:c.696_712del MANE Select	NP_976035.1:p.Ser232ArgfsTer6
NM_001363658.2:c.696_712del	NP_001350587.1:p.Ser232ArgfsTer6
NM_001318876.2:c.696_712del	NP_001305805.1:p.Ser232ArgfsTer6