Canonical Allele Identifier: CA538543912

Gene: PLCL1

Linked Data

• dbSNP Id: rs1471634748
• gnomAD v2: 2-198962831-CATAGA-C
• gnomAD v3: 2-198098107-CATAGA-C
• gnomAD v4: 2-198098107-CATAGA-C
• MyVariant Identifiers: chr2:g.198962832_198962836del (hg19) ; chr2:g.198098108_198098112del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.198098110_198098114del , CM000664.2:g.198098110_198098114del	GRCh38
NC_000002.11:g.198962834_198962838del , CM000664.1:g.198962834_198962838del	GRCh37
NC_000002.10:g.198671079_198671083del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428675.6:c.2920-3175_2920-3171del MANE Select	ENSP00000402861.1:n.2920-3175_2920-3171del
ENST00000428675.5:c.2920-3175_2920-3171del	ENSP00000402861.1:n.2920-3175_2920-3171del
ENST00000435320.1:c.*2692-3175_*2692-3171del	ENSP00000410488.1:n.*2692-3175_*2692-3171del
ENST00000437704.3:c.2689-3175_2689-3171del	ENSP00000414138.3:n.2689-3175_2689-3171del
ENST00000487695.6:c.2698-3175_2698-3171del	ENSP00000457588.1:n.2698-3175_2698-3171del
NM_006226.3:c.2920-3175_2920-3171del	NP_006217.3:n.2920-3175_2920-3171del
XM_005246643.2:c.2698-3175_2698-3171del	XP_005246700.1:n.2698-3175_2698-3171del
XM_005246644.2:c.2683-3175_2683-3171del	XP_005246701.1:n.2683-3175_2683-3171del
XM_011511351.1:c.2683-3175_2683-3171del	XP_011509653.1:n.2683-3175_2683-3171del
XM_005246643.4:c.2698-3175_2698-3171del	XP_005246700.1:n.2698-3175_2698-3171del
XM_005246644.4:c.2683-3175_2683-3171del	XP_005246701.1:n.2683-3175_2683-3171del
XM_011511351.2:c.2683-3175_2683-3171del	XP_011509653.1:n.2683-3175_2683-3171del
XM_017004339.2:c.2683-3175_2683-3171del	XP_016859828.1:n.2683-3175_2683-3171del
XM_017004340.2:c.2626-3175_2626-3171del	XP_016859829.1:n.2626-3175_2626-3171del
NM_006226.4:c.2920-3175_2920-3171del MANE Select	NP_006217.3:n.2920-3175_2920-3171del