Canonical Allele Identifier: CA3834783

Gene: POLR1C

Linked Data

• dbSNP Id: rs748812416
• ExAC: 6:44281111 AGCCAG / A
• gnomAD v2: 6-44281111-AGCCAG-A
• gnomAD v3: 6-44313374-AGCCAG-A
• gnomAD v4: 6-44313374-AGCCAG-A
• MyVariant Identifiers: chr6:g.44281112_44281116del (hg19) ; chr6:g.44313375_44313379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313377_44313381del , CM000668.2:g.44313377_44313381del	GRCh38
NC_000006.11:g.44281114_44281118del , CM000668.1:g.44281114_44281118del	GRCh37
NC_000006.10:g.44389092_44389096del	NCBI36
NG_031952.1:g.4948_4952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505802.1:c.855+5735_855+5739del
NM_001318876.2:c.946-128513_946-128509del	NP_001305805.1:n.946-128513_946-128509del