Canonical Allele Identifier: CA311261464

Gene: PLCB1

Linked Data

• dbSNP Id: rs957903247
• gnomAD v3: 20-8737499-CAAAG-C
• gnomAD v4: 20-8737499-CAAAG-C
• MyVariant Identifiers: chr20:g.8718147_8718150del (hg19) ; chr20:g.8737500_8737503del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737502_8737505del , CM000682.2:g.8737502_8737505del	GRCh38
NC_000020.10:g.8718149_8718152del , CM000682.1:g.8718149_8718152del	GRCh37
NC_000020.9:g.8666149_8666152del	NCBI36
NG_028168.1:g.609854_609857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2208+310_2208+313del MANE Select	ENSP00000338185.6:n.2208+310_2208+313del
ENST00000635830.1:n.2279+310_2279+313del
ENST00000636825.1:n.2072+310_2072+313del
ENST00000637919.1:c.1905+310_1905+313del	ENSP00000490862.1:n.1905+310_1905+313del
ENST00000338037.10:c.2208+310_2208+313del	ENSP00000338185.6:n.2208+310_2208+313del
ENST00000378637.6:c.2208+310_2208+313del	ENSP00000367904.2:n.2208+310_2208+313del
ENST00000378641.7:c.2208+310_2208+313del	ENSP00000367908.3:n.2208+310_2208+313del
ENST00000439627.2:c.165+310_165+313del	ENSP00000391162.1:n.165+310_165+313del
ENST00000487210.5:c.1430+310_1430+313del
ENST00000494924.2:n.1360+310_1360+313del
ENST00000612075.4:c.1968+310_1968+313del	ENSP00000479997.1:n.1968+310_1968+313del
ENST00000617005.4:c.1968+310_1968+313del	ENSP00000477664.1:n.1968+310_1968+313del
ENST00000625874.2:c.1905+310_1905+313del	ENSP00000486301.1:n.1905+310_1905+313del
ENST00000626966.2:c.1905+310_1905+313del	ENSP00000487075.1:n.1905+310_1905+313del
NM_015192.3:c.2208+310_2208+313del	NP_056007.1:n.2208+310_2208+313del
NM_182734.2:c.2208+310_2208+313del	NP_877398.1:n.2208+310_2208+313del
XM_011529199.1:c.2208+310_2208+313del	XP_011527501.1:n.2208+310_2208+313del
XM_011529200.1:c.1992+310_1992+313del	XP_011527502.1:n.1992+310_1992+313del
XM_011529201.1:c.1905+310_1905+313del	XP_011527503.1:n.1905+310_1905+313del
XM_011529203.1:c.435+310_435+313del	XP_011527505.1:n.435+310_435+313del
NM_015192.4:c.2208+310_2208+313del MANE Select	NP_056007.1:n.2208+310_2208+313del
NM_182734.3:c.2208+310_2208+313del	NP_877398.1:n.2208+310_2208+313del