Canonical Allele Identifier: CA9760138

Gene: PLCB1

Linked Data

• dbSNP Id: rs755736075
• ExAC: 20:8717635 CA / C
• gnomAD v2: 20-8717635-CA-C
• gnomAD v4: 20-8736988-CA-C
• MyVariant Identifiers: chr20:g.8717636del (hg19) ; chr20:g.8736989del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8736992del , CM000682.2:g.8736992del	GRCh38
NC_000020.10:g.8717639del , CM000682.1:g.8717639del	GRCh37
NC_000020.9:g.8665639del	NCBI36
NG_028168.1:g.609344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2044-36del MANE Select	ENSP00000338185.6:n.2044-36del
ENST00000635830.1:n.2115-36del
ENST00000636825.1:n.1908-36del
ENST00000637919.1:c.1741-36del	ENSP00000490862.1:n.1741-36del
ENST00000338037.10:c.2044-36del	ENSP00000338185.6:n.2044-36del
ENST00000378637.6:c.2044-36del	ENSP00000367904.2:n.2044-36del
ENST00000378641.7:c.2044-36del	ENSP00000367908.3:n.2044-36del
ENST00000487210.5:c.1266-36del
ENST00000494924.2:n.1196-36del
ENST00000612075.4:c.1804-36del	ENSP00000479997.1:n.1804-36del
ENST00000617005.4:c.1804-36del	ENSP00000477664.1:n.1804-36del
ENST00000625874.2:c.1741-36del	ENSP00000486301.1:n.1741-36del
ENST00000626966.2:c.1741-36del	ENSP00000487075.1:n.1741-36del
NM_015192.3:c.2044-36del	NP_056007.1:n.2044-36del
NM_182734.2:c.2044-36del	NP_877398.1:n.2044-36del
XM_011529199.1:c.2044-36del	XP_011527501.1:n.2044-36del
XM_011529200.1:c.1828-36del	XP_011527502.1:n.1828-36del
XM_011529201.1:c.1741-36del	XP_011527503.1:n.1741-36del
XM_011529203.1:c.271-36del	XP_011527505.1:n.271-36del
NM_015192.4:c.2044-36del MANE Select	NP_056007.1:n.2044-36del
NM_182734.3:c.2044-36del	NP_877398.1:n.2044-36del