Canonical Allele Identifier: CA2585699039

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793458-TCCCGACCTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793462_44793471del , CM000681.2:g.44793462_44793471del	GRCh38
NC_000019.9:g.45296719_45296728del , CM000681.1:g.45296719_45296728del	GRCh37
NC_000019.8:g.49988559_49988568del	NCBI36
NG_054718.1:g.20608_20617del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647358.2:c.1138-12_1138-3del MANE Select	ENSP00000494162.1:n.1138-12_1138-3del
ENST00000270279.7:c.1138-12_1138-3del	ENSP00000270279.3:n.1138-12_1138-3del
ENST00000341505.4:c.1000-12_1000-3del	ENSP00000340250.4:n.1000-12_1000-3del
NM_001130852.1:c.1000-12_1000-3del	NP_001124324.1:n.1000-12_1000-3del
NM_012116.3:c.1138-12_1138-3del	NP_036248.3:n.1138-12_1138-3del
XM_005258696.2:c.1138-12_1138-3del	XP_005258753.1:n.1138-12_1138-3del
XM_011526688.1:c.1138-12_1138-3del	XP_011524990.1:n.1138-12_1138-3del
XM_011526689.1:c.1000-12_1000-3del	XP_011524991.1:n.1000-12_1000-3del
XR_935783.1:n.1085-12_1085-3del
NM_012116.4:c.1138-12_1138-3del MANE Select	NP_036248.3:n.1138-12_1138-3del
XM_005258696.3:c.1138-12_1138-3del	XP_005258753.1:n.1138-12_1138-3del
XM_011526688.2:c.1138-12_1138-3del	XP_011524990.1:n.1138-12_1138-3del
XM_011526689.2:c.1000-12_1000-3del	XP_011524991.1:n.1000-12_1000-3del
XR_935783.2:n.1090-12_1090-3del