Canonical Allele Identifier: CA2814530687

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793707_44793708insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA , CM000681.2:g.44793707_44793708insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	GRCh38
NC_000019.9:g.45296964_45296965insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA , CM000681.1:g.45296964_45296965insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	GRCh37
NC_000019.8:g.49988804_49988805insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	NCBI36
NG_054718.1:g.20853_20854insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA MANE Select	ENSP00000494162.1:n.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCC...
ENST00000270279.7:c.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	ENSP00000270279.3:n.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCC...
ENST00000341505.4:c.1146+87_1146+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	ENSP00000340250.4:n.1146+87_1146+88insTGAAGGGCTGGGGTCTGGACTCC...
NM_001130852.1:c.1146+87_1146+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	NP_001124324.1:n.1146+87_1146+88insTGAAGGGCTGGGGTCTGGACTCCTGG...
NM_012116.3:c.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	NP_036248.3:n.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTC...
XM_005258696.2:c.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_005258753.1:n.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGG...
XM_011526688.1:c.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_011524990.1:n.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGG...
XM_011526689.1:c.1146+87_1146+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_011524991.1:n.1146+87_1146+88insTGAAGGGCTGGGGTCTGGACTCCTGG...
XR_935783.1:n.1231+87_1231+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA
NM_012116.4:c.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA MANE Select	NP_036248.3:n.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTC...
XM_005258696.3:c.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_005258753.1:n.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGG...
XM_011526688.2:c.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_011524990.1:n.1284+87_1284+88insTGAAGGGCTGGGGTCTGGACTCCTGG...
XM_011526689.2:c.1146+87_1146+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	XP_011524991.1:n.1146+87_1146+88insTGAAGGGCTGGGGTCTGGACTCCTGG...
XR_935783.2:n.1236+87_1236+88insTGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA