Canonical Allele Identifier: CA2814530692

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793711_44793712insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT , CM000681.2:g.44793711_44793712insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	GRCh38
NC_000019.9:g.45296968_45296969insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT , CM000681.1:g.45296968_45296969insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	GRCh37
NC_000019.8:g.49988808_49988809insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	NCBI36
NG_054718.1:g.20857_20858insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT MANE Select	ENSP00000494162.1:n.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGT...
ENST00000270279.7:c.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	ENSP00000270279.3:n.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGT...
ENST00000341505.4:c.1146+91_1146+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	ENSP00000340250.4:n.1146+91_1146+92insGGCTGGGGTCTGGACACCAGGGT...
NM_001130852.1:c.1146+91_1146+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	NP_001124324.1:n.1146+91_1146+92insGGCTGGGGTCTGGACACCAGGGTCTG...
NM_012116.3:c.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	NP_036248.3:n.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTGAGG...
XM_005258696.2:c.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	XP_005258753.1:n.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTG...
XM_011526688.1:c.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	XP_011524990.1:n.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTG...
XM_011526689.1:c.1146+91_1146+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	XP_011524991.1:n.1146+91_1146+92insGGCTGGGGTCTGGACACCAGGGTCTG...
XR_935783.1:n.1231+91_1231+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT
NM_012116.4:c.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT MANE Select	NP_036248.3:n.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTGAGG...
XM_005258696.3:c.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	XP_005258753.1:n.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTG...
XM_011526688.2:c.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	XP_011524990.1:n.1284+91_1284+92insGGCTGGGGTCTGGACACCAGGGTCTG...
XM_011526689.2:c.1146+91_1146+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT	XP_011524991.1:n.1146+91_1146+92insGGCTGGGGTCTGGACACCAGGGTCTG...
XR_935783.2:n.1236+91_1236+92insGGCTGGGGTCTGGACACCAGGGTCTGAGGGAGGAT