Canonical Allele Identifier: CA2585699107

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793685-C-CCTGGACTCCGGGGTCTGAGGGAGGAAGGGCTGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793694_44793695insGGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC , CM000681.2:g.44793694_44793695insGGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	GRCh38
NC_000019.9:g.45296951_45296952insGGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC , CM000681.1:g.45296951_45296952insGGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	GRCh37
NC_000019.8:g.49988791_49988792insGGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC	NCBI36
NG_054718.1:g.20840_20841insGGGGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCC

Transcript Alleles

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