Canonical Allele Identifier: CA2338111009

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793363_44793367delinsCTCTG , CM000681.2:g.44793363_44793367delinsCTCTG	GRCh38
NC_000019.9:g.45296620_45296624delinsCTCTG , CM000681.1:g.45296620_45296624delinsCTCTG	GRCh37
NC_000019.8:g.49988460_49988464delinsCTCTG	NCBI36
NG_054718.1:g.20509_20513delinsCTCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647358.2:c.1138-111_1138-107delinsCTCTG MANE Select	ENSP00000494162.1:n.1138-111_1138-107delinsCTCTG
ENST00000270279.7:c.1138-111_1138-107delinsCTCTG	ENSP00000270279.3:n.1138-111_1138-107delinsCTCTG
ENST00000341505.4:c.1000-111_1000-107delinsCTCTG	ENSP00000340250.4:n.1000-111_1000-107delinsCTCTG
NM_001130852.1:c.1000-111_1000-107delinsCTCTG	NP_001124324.1:n.1000-111_1000-107delinsCTCTG
NM_012116.3:c.1138-111_1138-107delinsCTCTG	NP_036248.3:n.1138-111_1138-107delinsCTCTG
XM_005258696.2:c.1138-111_1138-107delinsCTCTG	XP_005258753.1:n.1138-111_1138-107delinsCTCTG
XM_011526688.1:c.1138-111_1138-107delinsCTCTG	XP_011524990.1:n.1138-111_1138-107delinsCTCTG
XM_011526689.1:c.1000-111_1000-107delinsCTCTG	XP_011524991.1:n.1000-111_1000-107delinsCTCTG
XR_935783.1:n.1085-111_1085-107delinsCTCTG
NM_012116.4:c.1138-111_1138-107delinsCTCTG MANE Select	NP_036248.3:n.1138-111_1138-107delinsCTCTG
XM_005258696.3:c.1138-111_1138-107delinsCTCTG	XP_005258753.1:n.1138-111_1138-107delinsCTCTG
XM_011526688.2:c.1138-111_1138-107delinsCTCTG	XP_011524990.1:n.1138-111_1138-107delinsCTCTG
XM_011526689.2:c.1000-111_1000-107delinsCTCTG	XP_011524991.1:n.1000-111_1000-107delinsCTCTG
XR_935783.2:n.1090-111_1090-107delinsCTCTG