Canonical Allele Identifier: CA2349027121
Gene: PLCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.8737589_8737590delinsCA , CM000682.2:g.8737589_8737590delinsCA GRCh38
NC_000020.10:g.8718236_8718237delinsCA , CM000682.1:g.8718236_8718237delinsCA GRCh37
NC_000020.9:g.8666236_8666237delinsCA NCBI36
NG_028168.1:g.609941_609942delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000338037.11:c.2208+397_2208+398delinsCA MANE Select ENSP00000338185.6:n.2208+397_2208+398delinsCA
ENST00000635830.1:n.2279+397_2279+398delinsCA
ENST00000636825.1:n.2072+397_2072+398delinsCA
ENST00000637919.1:c.1905+397_1905+398delinsCA ENSP00000490862.1:n.1905+397_1905+398delinsCA
ENST00000338037.10:c.2208+397_2208+398delinsCA ENSP00000338185.6:n.2208+397_2208+398delinsCA
ENST00000378637.6:c.2208+397_2208+398delinsCA ENSP00000367904.2:n.2208+397_2208+398delinsCA
ENST00000378641.7:c.2208+397_2208+398delinsCA ENSP00000367908.3:n.2208+397_2208+398delinsCA
ENST00000439627.2:c.165+397_165+398delinsCA ENSP00000391162.1:n.165+397_165+398delinsCA
ENST00000487210.5:c.1430+397_1430+398delinsCA
ENST00000494924.2:n.1360+397_1360+398delinsCA
ENST00000612075.4:c.1968+397_1968+398delinsCA ENSP00000479997.1:n.1968+397_1968+398delinsCA
ENST00000617005.4:c.1968+397_1968+398delinsCA ENSP00000477664.1:n.1968+397_1968+398delinsCA
ENST00000625874.2:c.1905+397_1905+398delinsCA ENSP00000486301.1:n.1905+397_1905+398delinsCA
ENST00000626966.2:c.1905+397_1905+398delinsCA ENSP00000487075.1:n.1905+397_1905+398delinsCA
NM_015192.3:c.2208+397_2208+398delinsCA NP_056007.1:n.2208+397_2208+398delinsCA
NM_182734.2:c.2208+397_2208+398delinsCA NP_877398.1:n.2208+397_2208+398delinsCA
XM_011529199.1:c.2208+397_2208+398delinsCA XP_011527501.1:n.2208+397_2208+398delinsCA
XM_011529200.1:c.1992+397_1992+398delinsCA XP_011527502.1:n.1992+397_1992+398delinsCA
XM_011529201.1:c.1905+397_1905+398delinsCA XP_011527503.1:n.1905+397_1905+398delinsCA
XM_011529203.1:c.435+397_435+398delinsCA XP_011527505.1:n.435+397_435+398delinsCA
NM_015192.4:c.2208+397_2208+398delinsCA MANE Select NP_056007.1:n.2208+397_2208+398delinsCA
NM_182734.3:c.2208+397_2208+398delinsCA NP_877398.1:n.2208+397_2208+398delinsCA