Canonical Allele Identifier: CA2735945684

Gene: CBLC

Linked Data

• dbSNP Id: rs2122496406

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793757_44793758insGTGGGTATGGGGA , CM000681.2:g.44793757_44793758insGTGGGTATGGGGA	GRCh38
NC_000019.9:g.45297014_45297015insGTGGGTATGGGGA , CM000681.1:g.45297014_45297015insGTGGGTATGGGGA	GRCh37
NC_000019.8:g.49988854_49988855insGTGGGTATGGGGA	NCBI36
NG_054718.1:g.20903_20904insGTGGGTATGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+137_1284+138insGTGGGTATGGGGA MANE Select	ENSP00000494162.1:n.1284+137_1284+138insGTGGGTATGGGGA
ENST00000270279.7:c.1284+137_1284+138insGTGGGTATGGGGA	ENSP00000270279.3:n.1284+137_1284+138insGTGGGTATGGGGA
ENST00000341505.4:c.1146+137_1146+138insGTGGGTATGGGGA	ENSP00000340250.4:n.1146+137_1146+138insGTGGGTATGGGGA
NM_001130852.1:c.1146+137_1146+138insGTGGGTATGGGGA	NP_001124324.1:n.1146+137_1146+138insGTGGGTATGGGGA
NM_012116.3:c.1284+137_1284+138insGTGGGTATGGGGA	NP_036248.3:n.1284+137_1284+138insGTGGGTATGGGGA
XM_005258696.2:c.1284+137_1284+138insGTGGGTATGGGGA	XP_005258753.1:n.1284+137_1284+138insGTGGGTATGGGGA
XM_011526688.1:c.1284+137_1284+138insGTGGGTATGGGGA	XP_011524990.1:n.1284+137_1284+138insGTGGGTATGGGGA
XM_011526689.1:c.1146+137_1146+138insGTGGGTATGGGGA	XP_011524991.1:n.1146+137_1146+138insGTGGGTATGGGGA
XR_935783.1:n.1231+137_1231+138insGTGGGTATGGGGA
NM_012116.4:c.1284+137_1284+138insGTGGGTATGGGGA MANE Select	NP_036248.3:n.1284+137_1284+138insGTGGGTATGGGGA
XM_005258696.3:c.1284+137_1284+138insGTGGGTATGGGGA	XP_005258753.1:n.1284+137_1284+138insGTGGGTATGGGGA
XM_011526688.2:c.1284+137_1284+138insGTGGGTATGGGGA	XP_011524990.1:n.1284+137_1284+138insGTGGGTATGGGGA
XM_011526689.2:c.1146+137_1146+138insGTGGGTATGGGGA	XP_011524991.1:n.1146+137_1146+138insGTGGGTATGGGGA
XR_935783.2:n.1236+137_1236+138insGTGGGTATGGGGA