Canonical Allele Identifier: CA2585699047

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793499-TCTGCCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793504_44793509del , CM000681.2:g.44793504_44793509del	GRCh38
NC_000019.9:g.45296761_45296766del , CM000681.1:g.45296761_45296766del	GRCh37
NC_000019.8:g.49988601_49988606del	NCBI36
NG_054718.1:g.20650_20655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1168_1173del MANE Select	ENSP00000494162.1:p.Arg390_Cys391del
ENST00000270279.7:c.1168_1173del	ENSP00000270279.3:p.Arg390_Cys391del
ENST00000341505.4:c.1030_1035del	ENSP00000340250.4:p.Arg344_Cys345del
NM_001130852.1:c.1030_1035del	NP_001124324.1:p.Arg344_Cys345del
NM_012116.3:c.1168_1173del	NP_036248.3:p.Arg390_Cys391del
XM_005258696.2:c.1168_1173del	XP_005258753.1:p.Arg390_Cys391del
XM_011526688.1:c.1168_1173del	XP_011524990.1:p.Arg390_Cys391del
XM_011526689.1:c.1030_1035del	XP_011524991.1:p.Arg344_Cys345del
XR_935783.1:n.1115_1120del
NM_012116.4:c.1168_1173del MANE Select	NP_036248.3:p.Arg390_Cys391del
XM_005258696.3:c.1168_1173del	XP_005258753.1:p.Arg390_Cys391del
XM_011526688.2:c.1168_1173del	XP_011524990.1:p.Arg390_Cys391del
XM_011526689.2:c.1030_1035del	XP_011524991.1:p.Arg344_Cys345del
XR_935783.2:n.1120_1125del