Canonical Allele Identifier: CA2585699108

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793685-C-CCTGGACTCCCGGGTCTGAGGGAGGAAGGGCTGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793694_44793695insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC , CM000681.2:g.44793694_44793695insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	GRCh38
NC_000019.9:g.45296951_45296952insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC , CM000681.1:g.45296951_45296952insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	GRCh37
NC_000019.8:g.49988791_49988792insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	NCBI36
NG_054718.1:g.20840_20841insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC MANE Select	ENSP00000494162.1:n.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTG...
ENST00000270279.7:c.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	ENSP00000270279.3:n.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTG...
ENST00000341505.4:c.1146+74_1146+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	ENSP00000340250.4:n.1146+74_1146+75insCGGGTCTGAGGGAGGAAGGGCTG...
NM_001130852.1:c.1146+74_1146+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	NP_001124324.1:n.1146+74_1146+75insCGGGTCTGAGGGAGGAAGGGCTGGGG...
NM_012116.3:c.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	NP_036248.3:n.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCT...
XM_005258696.2:c.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	XP_005258753.1:n.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGG...
XM_011526688.1:c.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	XP_011524990.1:n.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGG...
XM_011526689.1:c.1146+74_1146+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	XP_011524991.1:n.1146+74_1146+75insCGGGTCTGAGGGAGGAAGGGCTGGGG...
XR_935783.1:n.1231+74_1231+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC
NM_012116.4:c.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC MANE Select	NP_036248.3:n.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCT...
XM_005258696.3:c.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	XP_005258753.1:n.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGG...
XM_011526688.2:c.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	XP_011524990.1:n.1284+74_1284+75insCGGGTCTGAGGGAGGAAGGGCTGGGG...
XM_011526689.2:c.1146+74_1146+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	XP_011524991.1:n.1146+74_1146+75insCGGGTCTGAGGGAGGAAGGGCTGGGG...
XR_935783.2:n.1236+74_1236+75insCGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC