Canonical Allele Identifier: CA633315351

Gene: CBLC

Linked Data

• gnomAD v2: 19-45296942-C-CCTGGACTCCTGGGTCTGAGGGAGGAAGGGTTGGGGT
• MyVariant Identifiers: chr19:g.45296942_45296943insCTGGACTCCTGGGTCTGAGGGAGGAAGGGTTGGGGT (hg19) ; chr19:g.44793685_44793686insCTGGACTCCTGGGTCTGAGGGAGGAAGGGTTGGGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793710_44793711insAGGGTTGGGGTCTGGACTCCTGGGTCTGAGGGAGGA , CM000681.2:g.44793710_44793711insAGGGTTGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	GRCh38
NC_000019.9:g.45296967_45296968insAGGGTTGGGGTCTGGACTCCTGGGTCTGAGGGAGGA , CM000681.1:g.45296967_45296968insAGGGTTGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	GRCh37
NC_000019.8:g.49988807_49988808insAGGGTTGGGGTCTGGACTCCTGGGTCTGAGGGAGGA	NCBI36
NG_054718.1:g.20856_20857insAGGGTTGGGGTCTGGACTCCTGGGTCTGAGGGAGGA

Transcript Alleles

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