Canonical Allele Identifier: CA2349027113

Gene: PLCB1

Linked Data

• dbSNP Id: rs1980647477

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737577_8737579del , CM000682.2:g.8737577_8737579del	GRCh38
NC_000020.10:g.8718224_8718226del , CM000682.1:g.8718224_8718226del	GRCh37
NC_000020.9:g.8666224_8666226del	NCBI36
NG_028168.1:g.609929_609931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2208+385_2208+387del MANE Select	ENSP00000338185.6:n.2208+385_2208+387del
ENST00000635830.1:n.2279+385_2279+387del
ENST00000636825.1:n.2072+385_2072+387del
ENST00000637919.1:c.1905+385_1905+387del	ENSP00000490862.1:n.1905+385_1905+387del
ENST00000338037.10:c.2208+385_2208+387del	ENSP00000338185.6:n.2208+385_2208+387del
ENST00000378637.6:c.2208+385_2208+387del	ENSP00000367904.2:n.2208+385_2208+387del
ENST00000378641.7:c.2208+385_2208+387del	ENSP00000367908.3:n.2208+385_2208+387del
ENST00000439627.2:c.165+385_165+387del	ENSP00000391162.1:n.165+385_165+387del
ENST00000487210.5:c.1430+385_1430+387del
ENST00000494924.2:n.1360+385_1360+387del
ENST00000612075.4:c.1968+385_1968+387del	ENSP00000479997.1:n.1968+385_1968+387del
ENST00000617005.4:c.1968+385_1968+387del	ENSP00000477664.1:n.1968+385_1968+387del
ENST00000625874.2:c.1905+385_1905+387del	ENSP00000486301.1:n.1905+385_1905+387del
ENST00000626966.2:c.1905+385_1905+387del	ENSP00000487075.1:n.1905+385_1905+387del
NM_015192.3:c.2208+385_2208+387del	NP_056007.1:n.2208+385_2208+387del
NM_182734.2:c.2208+385_2208+387del	NP_877398.1:n.2208+385_2208+387del
XM_011529199.1:c.2208+385_2208+387del	XP_011527501.1:n.2208+385_2208+387del
XM_011529200.1:c.1992+385_1992+387del	XP_011527502.1:n.1992+385_1992+387del
XM_011529201.1:c.1905+385_1905+387del	XP_011527503.1:n.1905+385_1905+387del
XM_011529203.1:c.435+385_435+387del	XP_011527505.1:n.435+385_435+387del
NM_015192.4:c.2208+385_2208+387del MANE Select	NP_056007.1:n.2208+385_2208+387del
NM_182734.3:c.2208+385_2208+387del	NP_877398.1:n.2208+385_2208+387del