Canonical Allele Identifier: CA2585699109

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793685-C-CCTAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793687_44793688insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT , CM000681.2:g.44793687_44793688insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	GRCh38
NC_000019.9:g.45296944_45296945insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT , CM000681.1:g.45296944_45296945insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	GRCh37
NC_000019.8:g.49988784_49988785insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	NCBI36
NG_054718.1:g.20833_20834insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT MANE Select	ENSP00000494162.1:n.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGA...
ENST00000270279.7:c.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	ENSP00000270279.3:n.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGA...
ENST00000341505.4:c.1146+67_1146+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	ENSP00000340250.4:n.1146+67_1146+68insAGACTCCTGGGTCTGAGGGAGGA...
NM_001130852.1:c.1146+67_1146+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	NP_001124324.1:n.1146+67_1146+68insAGACTCCTGGGTCTGAGGGAGGAAGG...
NM_012116.3:c.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	NP_036248.3:n.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCT...
XM_005258696.2:c.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	XP_005258753.1:n.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGG...
XM_011526688.1:c.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	XP_011524990.1:n.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGG...
XM_011526689.1:c.1146+67_1146+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	XP_011524991.1:n.1146+67_1146+68insAGACTCCTGGGTCTGAGGGAGGAAGG...
XR_935783.1:n.1231+67_1231+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT
NM_012116.4:c.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT MANE Select	NP_036248.3:n.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCT...
XM_005258696.3:c.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	XP_005258753.1:n.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGG...
XM_011526688.2:c.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	XP_011524990.1:n.1284+67_1284+68insAGACTCCTGGGTCTGAGGGAGGAAGG...
XM_011526689.2:c.1146+67_1146+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT	XP_011524991.1:n.1146+67_1146+68insAGACTCCTGGGTCTGAGGGAGGAAGG...
XR_935783.2:n.1236+67_1236+68insAGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTCT