Canonical Allele Identifier: CA744393818

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs1469425215
• gnomAD v4: 20-41116191-AC-A
• MyVariant Identifiers: chr20:g.39744832del (hg19) ; chr20:g.41116192del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116192del , CM000682.2:g.41116192del	GRCh38
NC_000020.10:g.39744832del , CM000682.1:g.39744832del	GRCh37
NC_000020.9:g.39178246del	NCBI36
NG_012262.1:g.92371del
NG_012262.2:g.92371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1708-86del (TOP1) MANE Select	ENSP00000354522.2:n.1708-86del
ENST00000680945.1:c.301-86del (TOP1)	ENSP00000504935.1:n.301-86del
ENST00000681058.1:n.6494-86del (TOP1)
ENST00000681113.1:c.*1403-86del (TOP1)	ENSP00000505788.1:n.*1403-86del
ENST00000681392.1:n.3016-86del (TOP1)
ENST00000681884.1:n.2970-86del (TOP1)
ENST00000361337.2:c.1708-86del (TOP1)	ENSP00000354522.2:n.1708-86del
NM_003286.2:c.1708-86del (TOP1)	NP_003277.1:n.1708-86del
NR_109889.1:n.711-14903del (PLCG1-AS1)
XM_011529032.1:c.1204-86del (TOP1)	XP_011527334.1:n.1204-86del
XM_011529033.1:c.970-86del (TOP1)	XP_011527335.1:n.970-86del
NM_003286.3:c.1708-86del (TOP1)	NP_003277.1:n.1708-86del
NM_003286.4:c.1708-86del (TOP1) MANE Select	NP_003277.1:n.1708-86del