Canonical Allele Identifier: CA567152629

Gene: POLR1C

Linked Data

• dbSNP Id: rs1561857938
• gnomAD v2: 6-43488174-CCT-C
• gnomAD v4: 6-43520436-CCT-C
• MyVariant Identifiers: chr6:g.43488175_43488176del (hg19) ; chr6:g.43520437_43520438del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520437_43520438del , CM000668.2:g.43520437_43520438del	GRCh38
NC_000006.11:g.43488175_43488176del , CM000668.1:g.43488175_43488176del	GRCh37
NC_000006.10:g.43596153_43596154del	NCBI36
NG_028283.1:g.8399_8400del
NG_028283.3:g.15736_15737del
NG_051658.1:g.60638_60639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.655+10_655+11del	ENSP00000496683.1:n.655+10_655+11del
ENST00000642195.1:c.655+10_655+11del MANE Select	ENSP00000496044.1:n.655+10_655+11del
ENST00000643341.1:c.655+10_655+11del	ENSP00000496018.1:n.655+10_655+11del
ENST00000643799.1:c.655+10_655+11del	ENSP00000494529.1:n.655+10_655+11del
ENST00000645141.1:c.*266+10_*266+11del	ENSP00000496755.1:n.*266+10_*266+11del
ENST00000646188.1:c.490+10_490+11del	ENSP00000496001.1:n.490+10_490+11del
ENST00000646433.1:c.655+10_655+11del	ENSP00000494368.1:n.655+10_655+11del
ENST00000646700.1:c.655+10_655+11del	ENSP00000495521.1:n.655+10_655+11del
ENST00000304004.7:c.655+10_655+11del	ENSP00000307212.3:n.655+10_655+11del
ENST00000372344.6:c.655+10_655+11del	ENSP00000361419.2:n.655+10_655+11del
ENST00000372389.7:c.655+10_655+11del	ENSP00000361465.3:n.655+10_655+11del
ENST00000455605.2:n.958_959del
ENST00000481352.6:n.1027+10_1027+11del
ENST00000488601.6:n.894+10_894+11del
NM_203290.2:c.655+10_655+11del	NP_976035.1:n.655+10_655+11del
XM_005249491.1:c.655+10_655+11del	XP_005249548.1:n.655+10_655+11del
XM_011515000.1:c.655+10_655+11del	XP_011513302.1:n.655+10_655+11del
NM_001318876.1:c.655+10_655+11del	NP_001305805.1:n.655+10_655+11del
NM_001363658.1:c.655+10_655+11del	NP_001350587.1:n.655+10_655+11del
NM_203290.3:c.655+10_655+11del	NP_976035.1:n.655+10_655+11del
NM_203290.4:c.655+10_655+11del MANE Select	NP_976035.1:n.655+10_655+11del
NM_001363658.2:c.655+10_655+11del	NP_001350587.1:n.655+10_655+11del
NM_001318876.2:c.655+10_655+11del	NP_001305805.1:n.655+10_655+11del