Canonical Allele Identifier: CA2577335176

Gene: PLCB1

Linked Data

• dbSNP Id: rs2123510844
• gnomAD v3: 20-8737270-ATTAT-A
• gnomAD v4: 20-8737270-ATTAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737273_8737276del , CM000682.2:g.8737273_8737276del	GRCh38
NC_000020.10:g.8717920_8717923del , CM000682.1:g.8717920_8717923del	GRCh37
NC_000020.9:g.8665920_8665923del	NCBI36
NG_028168.1:g.609625_609628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2208+81_2208+84del MANE Select	ENSP00000338185.6:n.2208+81_2208+84del
ENST00000635830.1:n.2279+81_2279+84del
ENST00000636825.1:n.2072+81_2072+84del
ENST00000637919.1:c.1905+81_1905+84del	ENSP00000490862.1:n.1905+81_1905+84del
ENST00000338037.10:c.2208+81_2208+84del	ENSP00000338185.6:n.2208+81_2208+84del
ENST00000378637.6:c.2208+81_2208+84del	ENSP00000367904.2:n.2208+81_2208+84del
ENST00000378641.7:c.2208+81_2208+84del	ENSP00000367908.3:n.2208+81_2208+84del
ENST00000439627.2:c.165+81_165+84del	ENSP00000391162.1:n.165+81_165+84del
ENST00000487210.5:c.1430+81_1430+84del
ENST00000494924.2:n.1360+81_1360+84del
ENST00000612075.4:c.1968+81_1968+84del	ENSP00000479997.1:n.1968+81_1968+84del
ENST00000617005.4:c.1968+81_1968+84del	ENSP00000477664.1:n.1968+81_1968+84del
ENST00000625874.2:c.1905+81_1905+84del	ENSP00000486301.1:n.1905+81_1905+84del
ENST00000626966.2:c.1905+81_1905+84del	ENSP00000487075.1:n.1905+81_1905+84del
NM_015192.3:c.2208+81_2208+84del	NP_056007.1:n.2208+81_2208+84del
NM_182734.2:c.2208+81_2208+84del	NP_877398.1:n.2208+81_2208+84del
XM_011529199.1:c.2208+81_2208+84del	XP_011527501.1:n.2208+81_2208+84del
XM_011529200.1:c.1992+81_1992+84del	XP_011527502.1:n.1992+81_1992+84del
XM_011529201.1:c.1905+81_1905+84del	XP_011527503.1:n.1905+81_1905+84del
XM_011529203.1:c.435+81_435+84del	XP_011527505.1:n.435+81_435+84del
NM_015192.4:c.2208+81_2208+84del MANE Select	NP_056007.1:n.2208+81_2208+84del
NM_182734.3:c.2208+81_2208+84del	NP_877398.1:n.2208+81_2208+84del