Canonical Allele Identifier: CA2338111045

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793436_44793437delinsAG , CM000681.2:g.44793436_44793437delinsAG	GRCh38
NC_000019.9:g.45296693_45296694delinsAG , CM000681.1:g.45296693_45296694delinsAG	GRCh37
NC_000019.8:g.49988533_49988534delinsAG	NCBI36
NG_054718.1:g.20582_20583delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1138-38_1138-37delinsAG MANE Select	ENSP00000494162.1:n.1138-38_1138-37delinsAG
ENST00000270279.7:c.1138-38_1138-37delinsAG	ENSP00000270279.3:n.1138-38_1138-37delinsAG
ENST00000341505.4:c.1000-38_1000-37delinsAG	ENSP00000340250.4:n.1000-38_1000-37delinsAG
NM_001130852.1:c.1000-38_1000-37delinsAG	NP_001124324.1:n.1000-38_1000-37delinsAG
NM_012116.3:c.1138-38_1138-37delinsAG	NP_036248.3:n.1138-38_1138-37delinsAG
XM_005258696.2:c.1138-38_1138-37delinsAG	XP_005258753.1:n.1138-38_1138-37delinsAG
XM_011526688.1:c.1138-38_1138-37delinsAG	XP_011524990.1:n.1138-38_1138-37delinsAG
XM_011526689.1:c.1000-38_1000-37delinsAG	XP_011524991.1:n.1000-38_1000-37delinsAG
XR_935783.1:n.1085-38_1085-37delinsAG
NM_012116.4:c.1138-38_1138-37delinsAG MANE Select	NP_036248.3:n.1138-38_1138-37delinsAG
XM_005258696.3:c.1138-38_1138-37delinsAG	XP_005258753.1:n.1138-38_1138-37delinsAG
XM_011526688.2:c.1138-38_1138-37delinsAG	XP_011524990.1:n.1138-38_1138-37delinsAG
XM_011526689.2:c.1000-38_1000-37delinsAG	XP_011524991.1:n.1000-38_1000-37delinsAG
XR_935783.2:n.1090-38_1090-37delinsAG