Canonical Allele Identifier: CA138396416

Gene: POLR1C

Linked Data

• dbSNP Id: rs919081829
• gnomAD v2: 6-44281153-CAG-C
• gnomAD v3: 6-44313416-CAG-C
• gnomAD v4: 6-44313416-CAG-C
• MyVariant Identifiers: chr6:g.44281154_44281155del (hg19) ; chr6:g.44313417_44313418del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313417_44313418del , CM000668.2:g.44313417_44313418del	GRCh38
NC_000006.11:g.44281154_44281155del , CM000668.1:g.44281154_44281155del	GRCh37
NC_000006.10:g.44389132_44389133del	NCBI36
NG_031952.1:g.4909_4910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505802.1:c.855+5775_855+5776del
NM_001318876.2:c.946-128473_946-128472del	NP_001305805.1:n.946-128473_946-128472del