Canonical Allele Identifier: CA2338111232

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793792_44793793delinsGT , CM000681.2:g.44793792_44793793delinsGT	GRCh38
NC_000019.9:g.45297049_45297050delinsGT , CM000681.1:g.45297049_45297050delinsGT	GRCh37
NC_000019.8:g.49988889_49988890delinsGT	NCBI36
NG_054718.1:g.20938_20939delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+172_1284+173delinsGT MANE Select	ENSP00000494162.1:n.1284+172_1284+173delinsGT
ENST00000270279.7:c.1284+172_1284+173delinsGT	ENSP00000270279.3:n.1284+172_1284+173delinsGT
ENST00000341505.4:c.1146+172_1146+173delinsGT	ENSP00000340250.4:n.1146+172_1146+173delinsGT
NM_001130852.1:c.1146+172_1146+173delinsGT	NP_001124324.1:n.1146+172_1146+173delinsGT
NM_012116.3:c.1284+172_1284+173delinsGT	NP_036248.3:n.1284+172_1284+173delinsGT
XM_005258696.2:c.1284+172_1284+173delinsGT	XP_005258753.1:n.1284+172_1284+173delinsGT
XM_011526688.1:c.1284+172_1284+173delinsGT	XP_011524990.1:n.1284+172_1284+173delinsGT
XM_011526689.1:c.1146+172_1146+173delinsGT	XP_011524991.1:n.1146+172_1146+173delinsGT
XR_935783.1:n.1231+172_1231+173delinsGT
NM_012116.4:c.1284+172_1284+173delinsGT MANE Select	NP_036248.3:n.1284+172_1284+173delinsGT
XM_005258696.3:c.1284+172_1284+173delinsGT	XP_005258753.1:n.1284+172_1284+173delinsGT
XM_011526688.2:c.1284+172_1284+173delinsGT	XP_011524990.1:n.1284+172_1284+173delinsGT
XM_011526689.2:c.1146+172_1146+173delinsGT	XP_011524991.1:n.1146+172_1146+173delinsGT
XR_935783.2:n.1236+172_1236+173delinsGT