Canonical Allele Identifier: CA2735945670

Gene: CBLC

Linked Data

• dbSNP Id: rs2122496394

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793752_44793753insCTGA , CM000681.2:g.44793752_44793753insCTGA	GRCh38
NC_000019.9:g.45297009_45297010insCTGA , CM000681.1:g.45297009_45297010insCTGA	GRCh37
NC_000019.8:g.49988849_49988850insCTGA	NCBI36
NG_054718.1:g.20898_20899insCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+132_1284+133insCTGA MANE Select	ENSP00000494162.1:n.1284+132_1284+133insCTGA
ENST00000270279.7:c.1284+132_1284+133insCTGA	ENSP00000270279.3:n.1284+132_1284+133insCTGA
ENST00000341505.4:c.1146+132_1146+133insCTGA	ENSP00000340250.4:n.1146+132_1146+133insCTGA
NM_001130852.1:c.1146+132_1146+133insCTGA	NP_001124324.1:n.1146+132_1146+133insCTGA
NM_012116.3:c.1284+132_1284+133insCTGA	NP_036248.3:n.1284+132_1284+133insCTGA
XM_005258696.2:c.1284+132_1284+133insCTGA	XP_005258753.1:n.1284+132_1284+133insCTGA
XM_011526688.1:c.1284+132_1284+133insCTGA	XP_011524990.1:n.1284+132_1284+133insCTGA
XM_011526689.1:c.1146+132_1146+133insCTGA	XP_011524991.1:n.1146+132_1146+133insCTGA
XR_935783.1:n.1231+132_1231+133insCTGA
NM_012116.4:c.1284+132_1284+133insCTGA MANE Select	NP_036248.3:n.1284+132_1284+133insCTGA
XM_005258696.3:c.1284+132_1284+133insCTGA	XP_005258753.1:n.1284+132_1284+133insCTGA
XM_011526688.2:c.1284+132_1284+133insCTGA	XP_011524990.1:n.1284+132_1284+133insCTGA
XM_011526689.2:c.1146+132_1146+133insCTGA	XP_011524991.1:n.1146+132_1146+133insCTGA
XR_935783.2:n.1236+132_1236+133insCTGA