Canonical Allele Identifier: CA538543909

Gene: PLCL1

Linked Data

• dbSNP Id: rs1166209831
• gnomAD v2: 2-198962705-GA-G
• gnomAD v3: 2-198097981-GA-G
• gnomAD v4: 2-198097981-GA-G
• MyVariant Identifiers: chr2:g.198962706del (hg19) ; chr2:g.198097982del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.198097984del , CM000664.2:g.198097984del	GRCh38
NC_000002.11:g.198962708del , CM000664.1:g.198962708del	GRCh37
NC_000002.10:g.198670953del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428675.6:c.2920-3301del MANE Select	ENSP00000402861.1:n.2920-3301del
ENST00000428675.5:c.2920-3301del	ENSP00000402861.1:n.2920-3301del
ENST00000435320.1:c.*2692-3301del	ENSP00000410488.1:n.*2692-3301del
ENST00000437704.3:c.2689-3301del	ENSP00000414138.3:n.2689-3301del
ENST00000487695.6:c.2698-3301del	ENSP00000457588.1:n.2698-3301del
NM_006226.3:c.2920-3301del	NP_006217.3:n.2920-3301del
XM_005246643.2:c.2698-3301del	XP_005246700.1:n.2698-3301del
XM_005246644.2:c.2683-3301del	XP_005246701.1:n.2683-3301del
XM_011511351.1:c.2683-3301del	XP_011509653.1:n.2683-3301del
XM_005246643.4:c.2698-3301del	XP_005246700.1:n.2698-3301del
XM_005246644.4:c.2683-3301del	XP_005246701.1:n.2683-3301del
XM_011511351.2:c.2683-3301del	XP_011509653.1:n.2683-3301del
XM_017004339.2:c.2683-3301del	XP_016859828.1:n.2683-3301del
XM_017004340.2:c.2626-3301del	XP_016859829.1:n.2626-3301del
NM_006226.4:c.2920-3301del MANE Select	NP_006217.3:n.2920-3301del