Canonical Allele Identifier: CA9504118
Gene: CBLC HGNC NCBI

Linked Data

dbSNP Id: rs66944506

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793591dup , CM000681.2:g.44793591dup GRCh38
NC_000019.9:g.45296848dup , CM000681.1:g.45296848dup GRCh37
NC_000019.8:g.49988688dup NCBI36
NG_054718.1:g.20737dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647358.2:c.1255dup MANE Select ENSP00000494162.1:p.Gln419ProfsTer?
ENST00000270279.7:c.1255dup ENSP00000270279.3:p.Gln419ProfsTer?
ENST00000341505.4:c.1117dup ENSP00000340250.4:p.Gln373ProfsTer?
NM_001130852.1:c.1117dup NP_001124324.1:p.Gln373ProfsTer?
NM_012116.3:c.1255dup NP_036248.3:p.Gln419ProfsTer?
XM_005258696.2:c.1255dup XP_005258753.1:p.Gln419ProfsTer?
XM_011526688.1:c.1255dup XP_011524990.1:p.Gln419ProfsTer?
XM_011526689.1:c.1117dup XP_011524991.1:p.Gln373ProfsTer?
XR_935783.1:n.1202dup
NM_012116.4:c.1255dup MANE Select NP_036248.3:p.Gln419ProfsTer?
XM_005258696.3:c.1255dup XP_005258753.1:p.Gln419ProfsTer?
XM_011526688.2:c.1255dup XP_011524990.1:p.Gln419ProfsTer?
XM_011526689.2:c.1117dup XP_011524991.1:p.Gln373ProfsTer?
XR_935783.2:n.1207dup