Canonical Allele Identifier: CA2364230980

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs2034332666
• gnomAD v4: 20-41116507-ACTTTTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116509_41116515del , CM000682.2:g.41116509_41116515del	GRCh38
NC_000020.10:g.39745149_39745155del , CM000682.1:g.39745149_39745155del	GRCh37
NC_000020.9:g.39178563_39178569del	NCBI36
NG_012262.1:g.92688_92694del
NG_012262.2:g.92688_92694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1822+117_1822+123del (TOP1) MANE Select	ENSP00000354522.2:n.1822+117_1822+123del
ENST00000680945.1:c.415+117_415+123del (TOP1)	ENSP00000504935.1:n.415+117_415+123del
ENST00000681058.1:n.6608+117_6608+123del (TOP1)
ENST00000681113.1:c.*1517+117_*1517+123del (TOP1)	ENSP00000505788.1:n.*1517+117_*1517+123del
ENST00000681392.1:n.3130+117_3130+123del (TOP1)
ENST00000681884.1:n.3084+117_3084+123del (TOP1)
ENST00000361337.2:c.1822+117_1822+123del (TOP1)	ENSP00000354522.2:n.1822+117_1822+123del
NM_003286.2:c.1822+117_1822+123del (TOP1)	NP_003277.1:n.1822+117_1822+123del
NR_109889.1:n.711-15225_711-15219del (PLCG1-AS1)
XM_011529032.1:c.1318+117_1318+123del (TOP1)	XP_011527334.1:n.1318+117_1318+123del
XM_011529033.1:c.1084+117_1084+123del (TOP1)	XP_011527335.1:n.1084+117_1084+123del
NM_003286.3:c.1822+117_1822+123del (TOP1)	NP_003277.1:n.1822+117_1822+123del
NM_003286.4:c.1822+117_1822+123del (TOP1) MANE Select	NP_003277.1:n.1822+117_1822+123del