Canonical Allele Identifier: CA9858323

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs770292530
• ExAC: 20:39745066 CCTACTAATGGTAT / C
• gnomAD v2: 20-39745066-CCTACTAATGGTAT-C
• gnomAD v3: 20-41116426-CCTACTAATGGTAT-C
• gnomAD v4: 20-41116426-CCTACTAATGGTAT-C
• MyVariant Identifiers: chr20:g.39745067_39745079del (hg19) ; chr20:g.41116427_41116439del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116428_41116440del , CM000682.2:g.41116428_41116440del	GRCh38
NC_000020.10:g.39745068_39745080del , CM000682.1:g.39745068_39745080del	GRCh37
NC_000020.9:g.39178482_39178494del	NCBI36
NG_012262.1:g.92607_92619del
NG_012262.2:g.92607_92619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1822+36_1822+48del (TOP1) MANE Select	ENSP00000354522.2:n.1822+36_1822+48del
ENST00000680945.1:c.415+36_415+48del (TOP1)	ENSP00000504935.1:n.415+36_415+48del
ENST00000681058.1:n.6608+36_6608+48del (TOP1)
ENST00000681113.1:c.*1517+36_*1517+48del (TOP1)	ENSP00000505788.1:n.*1517+36_*1517+48del
ENST00000681392.1:n.3130+36_3130+48del (TOP1)
ENST00000681884.1:n.3084+36_3084+48del (TOP1)
ENST00000361337.2:c.1822+36_1822+48del (TOP1)	ENSP00000354522.2:n.1822+36_1822+48del
NM_003286.2:c.1822+36_1822+48del (TOP1)	NP_003277.1:n.1822+36_1822+48del
NR_109889.1:n.711-15150_711-15138del (PLCG1-AS1)
XM_011529032.1:c.1318+36_1318+48del (TOP1)	XP_011527334.1:n.1318+36_1318+48del
XM_011529033.1:c.1084+36_1084+48del (TOP1)	XP_011527335.1:n.1084+36_1084+48del
NM_003286.3:c.1822+36_1822+48del (TOP1)	NP_003277.1:n.1822+36_1822+48del
NM_003286.4:c.1822+36_1822+48del (TOP1) MANE Select	NP_003277.1:n.1822+36_1822+48del