Canonical Allele Identifier: CA2815216603

Gene: PLCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737330_8737331insCACCCCAAACACACCCAACACA , CM000682.2:g.8737330_8737331insCACCCCAAACACACCCAACACA	GRCh38
NC_000020.10:g.8717977_8717978insCACCCCAAACACACCCAACACA , CM000682.1:g.8717977_8717978insCACCCCAAACACACCCAACACA	GRCh37
NC_000020.9:g.8665977_8665978insCACCCCAAACACACCCAACACA	NCBI36
NG_028168.1:g.609682_609683insCACCCCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2208+138_2208+139insCACCCCAAACACACCCAACACA MANE Select	ENSP00000338185.6:n.2208+138_2208+139insCACCCCAAACACACCCAACAC...
ENST00000635830.1:n.2279+138_2279+139insCACCCCAAACACACCCAACACA
ENST00000636825.1:n.2072+138_2072+139insCACCCCAAACACACCCAACACA
ENST00000637919.1:c.1905+138_1905+139insCACCCCAAACACACCCAACACA	ENSP00000490862.1:n.1905+138_1905+139insCACCCCAAACACACCCAACAC...
ENST00000338037.10:c.2208+138_2208+139insCACCCCAAACACACCCAACACA	ENSP00000338185.6:n.2208+138_2208+139insCACCCCAAACACACCCAACAC...
ENST00000378637.6:c.2208+138_2208+139insCACCCCAAACACACCCAACACA	ENSP00000367904.2:n.2208+138_2208+139insCACCCCAAACACACCCAACAC...
ENST00000378641.7:c.2208+138_2208+139insCACCCCAAACACACCCAACACA	ENSP00000367908.3:n.2208+138_2208+139insCACCCCAAACACACCCAACAC...
ENST00000439627.2:c.165+138_165+139insCACCCCAAACACACCCAACACA	ENSP00000391162.1:n.165+138_165+139insCACCCCAAACACACCCAACACA
ENST00000487210.5:c.1430+138_1430+139insCACCCCAAACACACCCAACACA
ENST00000494924.2:n.1360+138_1360+139insCACCCCAAACACACCCAACACA
ENST00000612075.4:c.1968+138_1968+139insCACCCCAAACACACCCAACACA	ENSP00000479997.1:n.1968+138_1968+139insCACCCCAAACACACCCAACAC...
ENST00000617005.4:c.1968+138_1968+139insCACCCCAAACACACCCAACACA	ENSP00000477664.1:n.1968+138_1968+139insCACCCCAAACACACCCAACAC...
ENST00000625874.2:c.1905+138_1905+139insCACCCCAAACACACCCAACACA	ENSP00000486301.1:n.1905+138_1905+139insCACCCCAAACACACCCAACAC...
ENST00000626966.2:c.1905+138_1905+139insCACCCCAAACACACCCAACACA	ENSP00000487075.1:n.1905+138_1905+139insCACCCCAAACACACCCAACAC...
NM_015192.3:c.2208+138_2208+139insCACCCCAAACACACCCAACACA	NP_056007.1:n.2208+138_2208+139insCACCCCAAACACACCCAACACA
NM_182734.2:c.2208+138_2208+139insCACCCCAAACACACCCAACACA	NP_877398.1:n.2208+138_2208+139insCACCCCAAACACACCCAACACA
XM_011529199.1:c.2208+138_2208+139insCACCCCAAACACACCCAACACA	XP_011527501.1:n.2208+138_2208+139insCACCCCAAACACACCCAACACA
XM_011529200.1:c.1992+138_1992+139insCACCCCAAACACACCCAACACA	XP_011527502.1:n.1992+138_1992+139insCACCCCAAACACACCCAACACA
XM_011529201.1:c.1905+138_1905+139insCACCCCAAACACACCCAACACA	XP_011527503.1:n.1905+138_1905+139insCACCCCAAACACACCCAACACA
XM_011529203.1:c.435+138_435+139insCACCCCAAACACACCCAACACA	XP_011527505.1:n.435+138_435+139insCACCCCAAACACACCCAACACA
NM_015192.4:c.2208+138_2208+139insCACCCCAAACACACCCAACACA MANE Select	NP_056007.1:n.2208+138_2208+139insCACCCCAAACACACCCAACACA
NM_182734.3:c.2208+138_2208+139insCACCCCAAACACACCCAACACA	NP_877398.1:n.2208+138_2208+139insCACCCCAAACACACCCAACACA