Canonical Allele Identifier: CA744393735

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs1397039337
• gnomAD v3: 20-41116023-GAT-G
• gnomAD v4: 20-41116023-GAT-G
• MyVariant Identifiers: chr20:g.39744664_39744665del (hg19) ; chr20:g.41116024_41116025del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116024_41116025del , CM000682.2:g.41116024_41116025del	GRCh38
NC_000020.10:g.39744664_39744665del , CM000682.1:g.39744664_39744665del	GRCh37
NC_000020.9:g.39178078_39178079del	NCBI36
NG_012262.1:g.92203_92204del
NG_012262.2:g.92203_92204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1708-254_1708-253del (TOP1) MANE Select	ENSP00000354522.2:n.1708-254_1708-253del
ENST00000680945.1:c.301-254_301-253del (TOP1)	ENSP00000504935.1:n.301-254_301-253del
ENST00000681058.1:n.6494-254_6494-253del (TOP1)
ENST00000681113.1:c.*1403-254_*1403-253del (TOP1)	ENSP00000505788.1:n.*1403-254_*1403-253del
ENST00000681392.1:n.3016-254_3016-253del (TOP1)
ENST00000681884.1:n.2970-254_2970-253del (TOP1)
ENST00000361337.2:c.1708-254_1708-253del (TOP1)	ENSP00000354522.2:n.1708-254_1708-253del
NM_003286.2:c.1708-254_1708-253del (TOP1)	NP_003277.1:n.1708-254_1708-253del
NR_109889.1:n.711-14736_711-14735del (PLCG1-AS1)
XM_011529032.1:c.1204-254_1204-253del (TOP1)	XP_011527334.1:n.1204-254_1204-253del
XM_011529033.1:c.970-254_970-253del (TOP1)	XP_011527335.1:n.970-254_970-253del
NM_003286.3:c.1708-254_1708-253del (TOP1)	NP_003277.1:n.1708-254_1708-253del
NM_003286.4:c.1708-254_1708-253del (TOP1) MANE Select	NP_003277.1:n.1708-254_1708-253del