Canonical Allele Identifier: CA996238489

Gene: CBLC

Linked Data

• gnomAD v3: 19-44793685-C-CATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT
• gnomAD v4: 19-44793685-C-CATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793685_44793686insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT , CM000681.2:g.44793685_44793686insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	GRCh38
NC_000019.9:g.45296942_45296943insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT , CM000681.1:g.45296942_45296943insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	GRCh37
NC_000019.8:g.49988782_49988783insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	NCBI36
NG_054718.1:g.20831_20832insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT MANE Select	ENSP00000494162.1:n.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAG...
ENST00000270279.7:c.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	ENSP00000270279.3:n.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAG...
ENST00000341505.4:c.1146+65_1146+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	ENSP00000340250.4:n.1146+65_1146+66insATGGACTCCTGGGTCTGAGGGAG...
NM_001130852.1:c.1146+65_1146+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	NP_001124324.1:n.1146+65_1146+66insATGGACTCCTGGGTCTGAGGGAGGAA...
NM_012116.3:c.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	NP_036248.3:n.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAAGGG...
XM_005258696.2:c.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	XP_005258753.1:n.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAA...
XM_011526688.1:c.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	XP_011524990.1:n.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAA...
XM_011526689.1:c.1146+65_1146+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	XP_011524991.1:n.1146+65_1146+66insATGGACTCCTGGGTCTGAGGGAGGAA...
XR_935783.1:n.1231+65_1231+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT
NM_012116.4:c.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT MANE Select	NP_036248.3:n.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAAGGG...
XM_005258696.3:c.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	XP_005258753.1:n.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAA...
XM_011526688.2:c.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	XP_011524990.1:n.1284+65_1284+66insATGGACTCCTGGGTCTGAGGGAGGAA...
XM_011526689.2:c.1146+65_1146+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	XP_011524991.1:n.1146+65_1146+66insATGGACTCCTGGGTCTGAGGGAGGAA...
XR_935783.2:n.1236+65_1236+66insATGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT