Canonical Allele Identifier: CA2735945378

Gene: CBLC

Linked Data

• dbSNP Id: rs2122495453

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793626_44793627insCCCC , CM000681.2:g.44793626_44793627insCCCC	GRCh38
NC_000019.9:g.45296883_45296884insCCCC , CM000681.1:g.45296883_45296884insCCCC	GRCh37
NC_000019.8:g.49988723_49988724insCCCC	NCBI36
NG_054718.1:g.20772_20773insCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+6_1284+7insCCCC MANE Select	ENSP00000494162.1:n.1284+6_1284+7insCCCC
ENST00000270279.7:c.1284+6_1284+7insCCCC	ENSP00000270279.3:n.1284+6_1284+7insCCCC
ENST00000341505.4:c.1146+6_1146+7insCCCC	ENSP00000340250.4:n.1146+6_1146+7insCCCC
NM_001130852.1:c.1146+6_1146+7insCCCC	NP_001124324.1:n.1146+6_1146+7insCCCC
NM_012116.3:c.1284+6_1284+7insCCCC	NP_036248.3:n.1284+6_1284+7insCCCC
XM_005258696.2:c.1284+6_1284+7insCCCC	XP_005258753.1:n.1284+6_1284+7insCCCC
XM_011526688.1:c.1284+6_1284+7insCCCC	XP_011524990.1:n.1284+6_1284+7insCCCC
XM_011526689.1:c.1146+6_1146+7insCCCC	XP_011524991.1:n.1146+6_1146+7insCCCC
XR_935783.1:n.1231+6_1231+7insCCCC
NM_012116.4:c.1284+6_1284+7insCCCC MANE Select	NP_036248.3:n.1284+6_1284+7insCCCC
XM_005258696.3:c.1284+6_1284+7insCCCC	XP_005258753.1:n.1284+6_1284+7insCCCC
XM_011526688.2:c.1284+6_1284+7insCCCC	XP_011524990.1:n.1284+6_1284+7insCCCC
XM_011526689.2:c.1146+6_1146+7insCCCC	XP_011524991.1:n.1146+6_1146+7insCCCC
XR_935783.2:n.1236+6_1236+7insCCCC