Canonical Allele Identifier: CA308902101

Gene: CBLC

Linked Data

• dbSNP Id: rs369869473

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793744_44793745insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA , CM000681.2:g.44793744_44793745insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	GRCh38
NC_000019.9:g.45297001_45297002insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA , CM000681.1:g.45297001_45297002insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	GRCh37
NC_000019.8:g.49988841_49988842insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	NCBI36
NG_054718.1:g.20890_20891insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA MANE Select	ENSP00000494162.1:n.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACT...
ENST00000270279.7:c.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	ENSP00000270279.3:n.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACT...
ENST00000341505.4:c.1146+124_1146+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	ENSP00000340250.4:n.1146+124_1146+125insGGAAGGGCTGGGGTCTGGACT...
NM_001130852.1:c.1146+124_1146+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	NP_001124324.1:n.1146+124_1146+125insGGAAGGGCTGGGGTCTGGACTCCT...
NM_012116.3:c.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	NP_036248.3:n.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCTGGG...
XM_005258696.2:c.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_005258753.1:n.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCT...
XM_011526688.1:c.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_011524990.1:n.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCT...
XM_011526689.1:c.1146+124_1146+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_011524991.1:n.1146+124_1146+125insGGAAGGGCTGGGGTCTGGACTCCT...
XR_935783.1:n.1231+124_1231+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA
NM_012116.4:c.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA MANE Select	NP_036248.3:n.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCTGGG...
XM_005258696.3:c.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_005258753.1:n.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCT...
XM_011526688.2:c.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_011524990.1:n.1284+124_1284+125insGGAAGGGCTGGGGTCTGGACTCCT...
XM_011526689.2:c.1146+124_1146+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_011524991.1:n.1146+124_1146+125insGGAAGGGCTGGGGTCTGGACTCCT...
XR_935783.2:n.1236+124_1236+125insGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA