Canonical Allele Identifier: CA3825478

Gene: POLR1C

Linked Data

• dbSNP Id: rs770633429
• ExAC: 6:43488030 ACATGGATC / A
• gnomAD v2: 6-43488030-ACATGGATC-A
• gnomAD v4: 6-43520292-ACATGGATC-A
• MyVariant Identifiers: chr6:g.43488031_43488038del (hg19) ; chr6:g.43520293_43520300del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520294_43520301del , CM000668.2:g.43520294_43520301del	GRCh38
NC_000006.11:g.43488032_43488039del , CM000668.1:g.43488032_43488039del	GRCh37
NC_000006.10:g.43596010_43596017del	NCBI36
NG_028283.1:g.8256_8263del
NG_028283.3:g.15593_15600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.522_529del	ENSP00000496683.1:p.Trp175ProfsTer6
ENST00000642195.1:c.522_529del MANE Select	ENSP00000496044.1:p.Trp175ProfsTer6
ENST00000643341.1:c.522_529del	ENSP00000496018.1:p.Trp175ProfsTer6
ENST00000643799.1:c.522_529del	ENSP00000494529.1:p.Trp175ProfsTer6
ENST00000645141.1:c.*133_*140del	ENSP00000496755.1:n.*133_*140del
ENST00000646188.1:c.357_364del	ENSP00000496001.1:p.Trp120ProfsTer6
ENST00000646433.1:c.522_529del	ENSP00000494368.1:p.Trp175ProfsTer6
ENST00000646700.1:c.522_529del	ENSP00000495521.1:p.Trp175ProfsTer6
ENST00000304004.7:c.522_529del	ENSP00000307212.3:p.Trp175ProfsTer6
ENST00000372344.6:c.522_529del	ENSP00000361419.2:p.Trp175ProfsTer6
ENST00000372389.7:c.522_529del	ENSP00000361465.3:p.Trp175ProfsTer6
ENST00000423780.1:c.400_407del
ENST00000428025.6:c.357_364del	ENSP00000395401.2:p.Trp120ProfsTer?
ENST00000455605.2:n.815_822del
ENST00000481352.6:n.894_901del
ENST00000488601.6:n.761_768del
NM_203290.2:c.522_529del	NP_976035.1:p.Trp175ProfsTer6
XM_005249491.1:c.522_529del	XP_005249548.1:p.Trp175ProfsTer6
XM_011515000.1:c.522_529del	XP_011513302.1:p.Trp175ProfsTer6
NM_001318876.1:c.522_529del	NP_001305805.1:p.Trp175ProfsTer6
NM_001363658.1:c.522_529del	NP_001350587.1:p.Trp175ProfsTer6
NM_203290.3:c.522_529del	NP_976035.1:p.Trp175ProfsTer6
NM_203290.4:c.522_529del MANE Select	NP_976035.1:p.Trp175ProfsTer6
NM_001363658.2:c.522_529del	NP_001350587.1:p.Trp175ProfsTer6
NM_001318876.2:c.522_529del	NP_001305805.1:p.Trp175ProfsTer6