Canonical Allele Identifier: CA633315367

Gene: CBLC

Linked Data

• gnomAD v2: 19-45296969-A-ACTCCTGGGTCTGAGGGAGGAGG
• gnomAD v3: 19-44793712-A-ACTCCTGGGTCTGAGGGAGGAGG
• gnomAD v4: 19-44793712-A-ACTCCTGGGTCTGAGGGAGGAGG
• MyVariant Identifiers: chr19:g.45296969_45296970insCTCCTGGGTCTGAGGGAGGAGG (hg19) ; chr19:g.44793712_44793713insCTCCTGGGTCTGAGGGAGGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793712_44793713insCTCCTGGGTCTGAGGGAGGAGG , CM000681.2:g.44793712_44793713insCTCCTGGGTCTGAGGGAGGAGG	GRCh38
NC_000019.9:g.45296969_45296970insCTCCTGGGTCTGAGGGAGGAGG , CM000681.1:g.45296969_45296970insCTCCTGGGTCTGAGGGAGGAGG	GRCh37
NC_000019.8:g.49988809_49988810insCTCCTGGGTCTGAGGGAGGAGG	NCBI36
NG_054718.1:g.20858_20859insCTCCTGGGTCTGAGGGAGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG MANE Select	ENSP00000494162.1:n.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG
ENST00000270279.7:c.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG	ENSP00000270279.3:n.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG
ENST00000341505.4:c.1146+92_1146+93insCTCCTGGGTCTGAGGGAGGAGG	ENSP00000340250.4:n.1146+92_1146+93insCTCCTGGGTCTGAGGGAGGAGG
NM_001130852.1:c.1146+92_1146+93insCTCCTGGGTCTGAGGGAGGAGG	NP_001124324.1:n.1146+92_1146+93insCTCCTGGGTCTGAGGGAGGAGG
NM_012116.3:c.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG	NP_036248.3:n.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG
XM_005258696.2:c.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG	XP_005258753.1:n.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG
XM_011526688.1:c.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG	XP_011524990.1:n.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG
XM_011526689.1:c.1146+92_1146+93insCTCCTGGGTCTGAGGGAGGAGG	XP_011524991.1:n.1146+92_1146+93insCTCCTGGGTCTGAGGGAGGAGG
XR_935783.1:n.1231+92_1231+93insCTCCTGGGTCTGAGGGAGGAGG
NM_012116.4:c.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG MANE Select	NP_036248.3:n.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG
XM_005258696.3:c.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG	XP_005258753.1:n.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG
XM_011526688.2:c.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG	XP_011524990.1:n.1284+92_1284+93insCTCCTGGGTCTGAGGGAGGAGG
XM_011526689.2:c.1146+92_1146+93insCTCCTGGGTCTGAGGGAGGAGG	XP_011524991.1:n.1146+92_1146+93insCTCCTGGGTCTGAGGGAGGAGG
XR_935783.2:n.1236+92_1236+93insCTCCTGGGTCTGAGGGAGGAGG