Canonical Allele Identifier: CA2585699105

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793685-C-CCTGGACTCCTGGGACTGAGGGAGGAAGGGCTGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793698_44793699insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG , CM000681.2:g.44793698_44793699insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	GRCh38
NC_000019.9:g.45296955_45296956insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG , CM000681.1:g.45296955_45296956insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	GRCh37
NC_000019.8:g.49988795_49988796insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	NCBI36
NG_054718.1:g.20844_20845insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG MANE Select	ENSP00000494162.1:n.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGT...
ENST00000270279.7:c.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	ENSP00000270279.3:n.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGT...
ENST00000341505.4:c.1146+78_1146+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	ENSP00000340250.4:n.1146+78_1146+79insACTGAGGGAGGAAGGGCTGGGGT...
NM_001130852.1:c.1146+78_1146+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	NP_001124324.1:n.1146+78_1146+79insACTGAGGGAGGAAGGGCTGGGGTCTG...
NM_012116.3:c.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	NP_036248.3:n.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTGGAC...
XM_005258696.2:c.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	XP_005258753.1:n.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTG...
XM_011526688.1:c.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	XP_011524990.1:n.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTG...
XM_011526689.1:c.1146+78_1146+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	XP_011524991.1:n.1146+78_1146+79insACTGAGGGAGGAAGGGCTGGGGTCTG...
XR_935783.1:n.1231+78_1231+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG
NM_012116.4:c.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG MANE Select	NP_036248.3:n.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTGGAC...
XM_005258696.3:c.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	XP_005258753.1:n.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTG...
XM_011526688.2:c.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	XP_011524990.1:n.1284+78_1284+79insACTGAGGGAGGAAGGGCTGGGGTCTG...
XM_011526689.2:c.1146+78_1146+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG	XP_011524991.1:n.1146+78_1146+79insACTGAGGGAGGAAGGGCTGGGGTCTG...
XR_935783.2:n.1236+78_1236+79insACTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGG