Canonical Allele Identifier: CA2503065086

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793714_44793716del , CM000681.2:g.44793714_44793716del	GRCh38
NC_000019.9:g.45296971_45296973del , CM000681.1:g.45296971_45296973del	GRCh37
NC_000019.8:g.49988811_49988813del	NCBI36
NG_054718.1:g.20860_20862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+94_1284+96del MANE Select	ENSP00000494162.1:n.1284+94_1284+96del
ENST00000270279.7:c.1284+94_1284+96del	ENSP00000270279.3:n.1284+94_1284+96del
ENST00000341505.4:c.1146+94_1146+96del	ENSP00000340250.4:n.1146+94_1146+96del
NM_001130852.1:c.1146+94_1146+96del	NP_001124324.1:n.1146+94_1146+96del
NM_012116.3:c.1284+94_1284+96del	NP_036248.3:n.1284+94_1284+96del
XM_005258696.2:c.1284+94_1284+96del	XP_005258753.1:n.1284+94_1284+96del
XM_011526688.1:c.1284+94_1284+96del	XP_011524990.1:n.1284+94_1284+96del
XM_011526689.1:c.1146+94_1146+96del	XP_011524991.1:n.1146+94_1146+96del
XR_935783.1:n.1231+94_1231+96del
NM_012116.4:c.1284+94_1284+96del MANE Select	NP_036248.3:n.1284+94_1284+96del
XM_005258696.3:c.1284+94_1284+96del	XP_005258753.1:n.1284+94_1284+96del
XM_011526688.2:c.1284+94_1284+96del	XP_011524990.1:n.1284+94_1284+96del
XM_011526689.2:c.1146+94_1146+96del	XP_011524991.1:n.1146+94_1146+96del
XR_935783.2:n.1236+94_1236+96del