Canonical Allele Identifier: CA2585699102

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793685-C-CCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793710_44793711insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA , CM000681.2:g.44793710_44793711insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	GRCh38
NC_000019.9:g.45296967_45296968insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA , CM000681.1:g.45296967_45296968insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	GRCh37
NC_000019.8:g.49988807_49988808insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	NCBI36
NG_054718.1:g.20856_20857insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA MANE Select	ENSP00000494162.1:n.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTG...
ENST00000270279.7:c.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	ENSP00000270279.3:n.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTG...
ENST00000341505.4:c.1146+90_1146+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	ENSP00000340250.4:n.1146+90_1146+91insAGGGCTGGGGGTCTGGACTCCTG...
NM_001130852.1:c.1146+90_1146+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	NP_001124324.1:n.1146+90_1146+91insAGGGCTGGGGGTCTGGACTCCTGGGT...
NM_012116.3:c.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	NP_036248.3:n.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTG...
XM_005258696.2:c.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	XP_005258753.1:n.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGT...
XM_011526688.1:c.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	XP_011524990.1:n.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGT...
XM_011526689.1:c.1146+90_1146+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	XP_011524991.1:n.1146+90_1146+91insAGGGCTGGGGGTCTGGACTCCTGGGT...
XR_935783.1:n.1231+90_1231+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA
NM_012116.4:c.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA MANE Select	NP_036248.3:n.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTG...
XM_005258696.3:c.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	XP_005258753.1:n.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGT...
XM_011526688.2:c.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	XP_011524990.1:n.1284+90_1284+91insAGGGCTGGGGGTCTGGACTCCTGGGT...
XM_011526689.2:c.1146+90_1146+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	XP_011524991.1:n.1146+90_1146+91insAGGGCTGGGGGTCTGGACTCCTGGGT...
XR_935783.2:n.1236+90_1236+91insAGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA