Canonical Allele Identifier: CA308901874

Gene: CBLC

Linked Data

• dbSNP Id: rs66944506

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793591del , CM000681.2:g.44793591del	GRCh38
NC_000019.9:g.45296848del , CM000681.1:g.45296848del	GRCh37
NC_000019.8:g.49988688del	NCBI36
NG_054718.1:g.20737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1255del MANE Select	ENSP00000494162.1:p.Gln419ArgfsTer?
ENST00000270279.7:c.1255del	ENSP00000270279.3:p.Gln419ArgfsTer?
ENST00000341505.4:c.1117del	ENSP00000340250.4:p.Gln373ArgfsTer?
NM_001130852.1:c.1117del	NP_001124324.1:p.Gln373ArgfsTer?
NM_012116.3:c.1255del	NP_036248.3:p.Gln419ArgfsTer?
XM_005258696.2:c.1255del	XP_005258753.1:p.Gln419ArgfsTer16
XM_011526688.1:c.1255del	XP_011524990.1:p.Gln419ArgfsTer?
XM_011526689.1:c.1117del	XP_011524991.1:p.Gln373ArgfsTer?
XR_935783.1:n.1202del
NM_012116.4:c.1255del MANE Select	NP_036248.3:p.Gln419ArgfsTer?
XM_005258696.3:c.1255del	XP_005258753.1:p.Gln419ArgfsTer16
XM_011526688.2:c.1255del	XP_011524990.1:p.Gln419ArgfsTer?
XM_011526689.2:c.1117del	XP_011524991.1:p.Gln373ArgfsTer?
XR_935783.2:n.1207del