Canonical Allele Identifier: CA2338111099

Gene: CBLC

Linked Data

• dbSNP Id: rs1968107265

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793533_44793536del , CM000681.2:g.44793533_44793536del	GRCh38
NC_000019.9:g.45296790_45296793del , CM000681.1:g.45296790_45296793del	GRCh37
NC_000019.8:g.49988630_49988633del	NCBI36
NG_054718.1:g.20679_20682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1197_1200del MANE Select	ENSP00000494162.1:p.Ile401ThrfsTer?
ENST00000270279.7:c.1197_1200del	ENSP00000270279.3:p.Ile401ThrfsTer?
ENST00000341505.4:c.1059_1062del	ENSP00000340250.4:p.Ile355ThrfsTer?
NM_001130852.1:c.1059_1062del	NP_001124324.1:p.Ile355ThrfsTer?
NM_012116.3:c.1197_1200del	NP_036248.3:p.Ile401ThrfsTer?
XM_005258696.2:c.1197_1200del	XP_005258753.1:p.Ile401ThrfsTer?
XM_011526688.1:c.1197_1200del	XP_011524990.1:p.Ile401ThrfsTer?
XM_011526689.1:c.1059_1062del	XP_011524991.1:p.Ile355ThrfsTer?
XR_935783.1:n.1144_1147del
NM_012116.4:c.1197_1200del MANE Select	NP_036248.3:p.Ile401ThrfsTer?
XM_005258696.3:c.1197_1200del	XP_005258753.1:p.Ile401ThrfsTer?
XM_011526688.2:c.1197_1200del	XP_011524990.1:p.Ile401ThrfsTer?
XM_011526689.2:c.1059_1062del	XP_011524991.1:p.Ile355ThrfsTer?
XR_935783.2:n.1149_1152del