Canonical Allele Identifier: CA2585699098

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793685-C-CCCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793686_44793687insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC , CM000681.2:g.44793686_44793687insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	GRCh38
NC_000019.9:g.45296943_45296944insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC , CM000681.1:g.45296943_45296944insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	GRCh37
NC_000019.8:g.49988783_49988784insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	NCBI36
NG_054718.1:g.20832_20833insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC MANE Select	ENSP00000494162.1:n.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGG...
ENST00000270279.7:c.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	ENSP00000270279.3:n.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGG...
ENST00000341505.4:c.1146+66_1146+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	ENSP00000340250.4:n.1146+66_1146+67insCGGACTCCTGGGTCTGAGGGAGG...
NM_001130852.1:c.1146+66_1146+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	NP_001124324.1:n.1146+66_1146+67insCGGACTCCTGGGTCTGAGGGAGGAAG...
NM_012116.3:c.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	NP_036248.3:n.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGC...
XM_005258696.2:c.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	XP_005258753.1:n.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAG...
XM_011526688.1:c.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	XP_011524990.1:n.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAG...
XM_011526689.1:c.1146+66_1146+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	XP_011524991.1:n.1146+66_1146+67insCGGACTCCTGGGTCTGAGGGAGGAAG...
XR_935783.1:n.1231+66_1231+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC
NM_012116.4:c.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC MANE Select	NP_036248.3:n.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGC...
XM_005258696.3:c.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	XP_005258753.1:n.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAG...
XM_011526688.2:c.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	XP_011524990.1:n.1284+66_1284+67insCGGACTCCTGGGTCTGAGGGAGGAAG...
XM_011526689.2:c.1146+66_1146+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC	XP_011524991.1:n.1146+66_1146+67insCGGACTCCTGGGTCTGAGGGAGGAAG...
XR_935783.2:n.1236+66_1236+67insCGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGTC