Canonical Allele Identifier: CA2585699048

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793570-GACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793571_44793573del , CM000681.2:g.44793571_44793573del	GRCh38
NC_000019.9:g.45296828_45296830del , CM000681.1:g.45296828_45296830del	GRCh37
NC_000019.8:g.49988668_49988670del	NCBI36
NG_054718.1:g.20717_20719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1235_1237del MANE Select	ENSP00000494162.1:p.Asp412_Ser413delinsAla
ENST00000270279.7:c.1235_1237del	ENSP00000270279.3:p.Asp412_Ser413delinsAla
ENST00000341505.4:c.1097_1099del	ENSP00000340250.4:p.Asp366_Ser367delinsAla
NM_001130852.1:c.1097_1099del	NP_001124324.1:p.Asp366_Ser367delinsAla
NM_012116.3:c.1235_1237del	NP_036248.3:p.Asp412_Ser413delinsAla
XM_005258696.2:c.1235_1237del	XP_005258753.1:p.Asp412_Ser413delinsAla
XM_011526688.1:c.1235_1237del	XP_011524990.1:p.Asp412_Ser413delinsAla
XM_011526689.1:c.1097_1099del	XP_011524991.1:p.Asp366_Ser367delinsAla
XR_935783.1:n.1182_1184del
NM_012116.4:c.1235_1237del MANE Select	NP_036248.3:p.Asp412_Ser413delinsAla
XM_005258696.3:c.1235_1237del	XP_005258753.1:p.Asp412_Ser413delinsAla
XM_011526688.2:c.1235_1237del	XP_011524990.1:p.Asp412_Ser413delinsAla
XM_011526689.2:c.1097_1099del	XP_011524991.1:p.Asp366_Ser367delinsAla
XR_935783.2:n.1187_1189del