Canonical Allele Identifier: CA2814530675

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793674_44793675insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA , CM000681.2:g.44793674_44793675insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	GRCh38
NC_000019.9:g.45296931_45296932insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA , CM000681.1:g.45296931_45296932insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	GRCh37
NC_000019.8:g.49988771_49988772insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	NCBI36
NG_054718.1:g.20820_20821insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA MANE Select	ENSP00000494162.1:n.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTT...
ENST00000270279.7:c.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	ENSP00000270279.3:n.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTT...
ENST00000341505.4:c.1146+54_1146+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	ENSP00000340250.4:n.1146+54_1146+55insATTGAAATAAGAAGCCTGTTTTT...
NM_001130852.1:c.1146+54_1146+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	NP_001124324.1:n.1146+54_1146+55insATTGAAATAAGAAGCCTGTTTTTCCT...
NM_012116.3:c.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	NP_036248.3:n.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCTAGA...
XM_005258696.2:c.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	XP_005258753.1:n.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCT...
XM_011526688.1:c.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	XP_011524990.1:n.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCT...
XM_011526689.1:c.1146+54_1146+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	XP_011524991.1:n.1146+54_1146+55insATTGAAATAAGAAGCCTGTTTTTCCT...
XR_935783.1:n.1231+54_1231+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA
NM_012116.4:c.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA MANE Select	NP_036248.3:n.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCTAGA...
XM_005258696.3:c.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	XP_005258753.1:n.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCT...
XM_011526688.2:c.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	XP_011524990.1:n.1284+54_1284+55insATTGAAATAAGAAGCCTGTTTTTCCT...
XM_011526689.2:c.1146+54_1146+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA	XP_011524991.1:n.1146+54_1146+55insATTGAAATAAGAAGCCTGTTTTTCCT...
XR_935783.2:n.1236+54_1236+55insATTGAAATAAGAAGCCTGTTTTTCCTAGAGCCATCTCTTATGAA