Canonical Allele Identifier: CA2585699104

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793685-C-CCTGGACTCCTGGGTATGAGGGAGGAAGGGCTGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793699_44793700insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT , CM000681.2:g.44793699_44793700insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	GRCh38
NC_000019.9:g.45296956_45296957insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT , CM000681.1:g.45296956_45296957insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	GRCh37
NC_000019.8:g.49988796_49988797insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	NCBI36
NG_054718.1:g.20845_20846insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT MANE Select	ENSP00000494162.1:n.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTC...
ENST00000270279.7:c.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	ENSP00000270279.3:n.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTC...
ENST00000341505.4:c.1146+79_1146+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	ENSP00000340250.4:n.1146+79_1146+80insATGAGGGAGGAAGGGCTGGGGTC...
NM_001130852.1:c.1146+79_1146+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	NP_001124324.1:n.1146+79_1146+80insATGAGGGAGGAAGGGCTGGGGTCTGG...
NM_012116.3:c.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	NP_036248.3:n.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGGACT...
XM_005258696.2:c.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	XP_005258753.1:n.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGG...
XM_011526688.1:c.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	XP_011524990.1:n.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGG...
XM_011526689.1:c.1146+79_1146+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	XP_011524991.1:n.1146+79_1146+80insATGAGGGAGGAAGGGCTGGGGTCTGG...
XR_935783.1:n.1231+79_1231+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT
NM_012116.4:c.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT MANE Select	NP_036248.3:n.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGGACT...
XM_005258696.3:c.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	XP_005258753.1:n.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGG...
XM_011526688.2:c.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	XP_011524990.1:n.1284+79_1284+80insATGAGGGAGGAAGGGCTGGGGTCTGG...
XM_011526689.2:c.1146+79_1146+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT	XP_011524991.1:n.1146+79_1146+80insATGAGGGAGGAAGGGCTGGGGTCTGG...
XR_935783.2:n.1236+79_1236+80insATGAGGGAGGAAGGGCTGGGGTCTGGACTCCTGGGT