Canonical Allele Identifier: CA2585699050

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793576-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793576_44793577insAA , CM000681.2:g.44793576_44793577insAA	GRCh38
NC_000019.9:g.45296833_45296834insAA , CM000681.1:g.45296833_45296834insAA	GRCh37
NC_000019.8:g.49988673_49988674insAA	NCBI36
NG_054718.1:g.20722_20723insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1240_1241insAA MANE Select	ENSP00000494162.1:p.Gly414GlufsTer?
ENST00000270279.7:c.1240_1241insAA	ENSP00000270279.3:p.Gly414GlufsTer?
ENST00000341505.4:c.1102_1103insAA	ENSP00000340250.4:p.Gly368GlufsTer?
NM_001130852.1:c.1102_1103insAA	NP_001124324.1:p.Gly368GlufsTer?
NM_012116.3:c.1240_1241insAA	NP_036248.3:p.Gly414GlufsTer?
XM_005258696.2:c.1240_1241insAA	XP_005258753.1:p.Gly414GlufsTer22
XM_011526688.1:c.1240_1241insAA	XP_011524990.1:p.Gly414GlufsTer?
XM_011526689.1:c.1102_1103insAA	XP_011524991.1:p.Gly368GlufsTer?
XR_935783.1:n.1187_1188insAA
NM_012116.4:c.1240_1241insAA MANE Select	NP_036248.3:p.Gly414GlufsTer?
XM_005258696.3:c.1240_1241insAA	XP_005258753.1:p.Gly414GlufsTer22
XM_011526688.2:c.1240_1241insAA	XP_011524990.1:p.Gly414GlufsTer?
XM_011526689.2:c.1102_1103insAA	XP_011524991.1:p.Gly368GlufsTer?
XR_935783.2:n.1192_1193insAA