Canonical Allele Identifier: CA3825440

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 1390718
• ClinVar RCV Id: RCV001889610
• dbSNP Id: rs553478354
• ExAC: 6:43487873 ATGC / A
• gnomAD v2: 6-43487873-ATGC-A
• gnomAD v3: 6-43520135-ATGC-A
• gnomAD v4: 6-43520135-ATGC-A
• MyVariant Identifiers: chr6:g.43487874_43487876del (hg19) ; chr6:g.43520136_43520138del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520140_43520142del , CM000668.2:g.43520140_43520142del	GRCh38
NC_000006.11:g.43487878_43487880del , CM000668.1:g.43487878_43487880del	GRCh37
NC_000006.10:g.43595856_43595858del	NCBI36
NG_028283.1:g.8102_8104del
NG_028283.3:g.15439_15441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.457_459del	ENSP00000496683.1:p.Ala153del
ENST00000642195.1:c.457_459del MANE Select	ENSP00000496044.1:p.Ala153del
ENST00000643341.1:c.457_459del	ENSP00000496018.1:p.Ala153del
ENST00000643799.1:c.457_459del	ENSP00000494529.1:p.Ala153del
ENST00000645141.1:c.*68_*70del	ENSP00000496755.1:n.*68_*70del
ENST00000646188.1:c.292_294del	ENSP00000496001.1:p.Ala98del
ENST00000646433.1:c.457_459del	ENSP00000494368.1:p.Ala153del
ENST00000646700.1:c.457_459del	ENSP00000495521.1:p.Ala153del
ENST00000304004.7:c.457_459del	ENSP00000307212.3:p.Ala153del
ENST00000372344.6:c.457_459del	ENSP00000361419.2:p.Ala153del
ENST00000372389.7:c.457_459del	ENSP00000361465.3:p.Ala153del
ENST00000423780.1:c.381-135_381-133del
ENST00000428025.6:c.292_294del	ENSP00000395401.2:p.Ala98del
ENST00000455605.2:n.661_663del
ENST00000481352.6:n.740_742del
ENST00000488601.6:n.696_698del
NM_203290.2:c.457_459del	NP_976035.1:p.Ala153del
XM_005249491.1:c.457_459del	XP_005249548.1:p.Ala153del
XM_011515000.1:c.457_459del	XP_011513302.1:p.Ala153del
NM_001318876.1:c.457_459del	NP_001305805.1:p.Ala153del
NM_001363658.1:c.457_459del	NP_001350587.1:p.Ala153del
NM_203290.3:c.457_459del	NP_976035.1:p.Ala153del
NM_203290.4:c.457_459del MANE Select	NP_976035.1:p.Ala153del
NM_001363658.2:c.457_459del	NP_001350587.1:p.Ala153del
NM_001318876.2:c.457_459del	NP_001305805.1:p.Ala153del