Canonical Allele Identifier: CA2585699197

Gene: CBLC

Linked Data

• dbSNP Id: rs2122496464
• gnomAD v4: 19-44793764-C-CTCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793765_44793768dup , CM000681.2:g.44793765_44793768dup	GRCh38
NC_000019.9:g.45297022_45297025dup , CM000681.1:g.45297022_45297025dup	GRCh37
NC_000019.8:g.49988862_49988865dup	NCBI36
NG_054718.1:g.20911_20914dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+145_1284+148dup MANE Select	ENSP00000494162.1:n.1284+145_1284+148dup
ENST00000270279.7:c.1284+145_1284+148dup	ENSP00000270279.3:n.1284+145_1284+148dup
ENST00000341505.4:c.1146+145_1146+148dup	ENSP00000340250.4:n.1146+145_1146+148dup
NM_001130852.1:c.1146+145_1146+148dup	NP_001124324.1:n.1146+145_1146+148dup
NM_012116.3:c.1284+145_1284+148dup	NP_036248.3:n.1284+145_1284+148dup
XM_005258696.2:c.1284+145_1284+148dup	XP_005258753.1:n.1284+145_1284+148dup
XM_011526688.1:c.1284+145_1284+148dup	XP_011524990.1:n.1284+145_1284+148dup
XM_011526689.1:c.1146+145_1146+148dup	XP_011524991.1:n.1146+145_1146+148dup
XR_935783.1:n.1231+145_1231+148dup
NM_012116.4:c.1284+145_1284+148dup MANE Select	NP_036248.3:n.1284+145_1284+148dup
XM_005258696.3:c.1284+145_1284+148dup	XP_005258753.1:n.1284+145_1284+148dup
XM_011526688.2:c.1284+145_1284+148dup	XP_011524990.1:n.1284+145_1284+148dup
XM_011526689.2:c.1146+145_1146+148dup	XP_011524991.1:n.1146+145_1146+148dup
XR_935783.2:n.1236+145_1236+148dup