Canonical Allele Identifier: CA2585699100

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793685-C-CCTGGACTCCTGGGTCTGAGTGAGGAAGGGCTGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793704_44793705insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG , CM000681.2:g.44793704_44793705insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	GRCh38
NC_000019.9:g.45296961_45296962insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG , CM000681.1:g.45296961_45296962insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	GRCh37
NC_000019.8:g.49988801_49988802insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	NCBI36
NG_054718.1:g.20850_20851insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG MANE Select	ENSP00000494162.1:n.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGAC...
ENST00000270279.7:c.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	ENSP00000270279.3:n.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGAC...
ENST00000341505.4:c.1146+84_1146+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	ENSP00000340250.4:n.1146+84_1146+85insTGAGGAAGGGCTGGGGTCTGGAC...
NM_001130852.1:c.1146+84_1146+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	NP_001124324.1:n.1146+84_1146+85insTGAGGAAGGGCTGGGGTCTGGACTCC...
NM_012116.3:c.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	NP_036248.3:n.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGG...
XM_005258696.2:c.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	XP_005258753.1:n.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCC...
XM_011526688.1:c.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	XP_011524990.1:n.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCC...
XM_011526689.1:c.1146+84_1146+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	XP_011524991.1:n.1146+84_1146+85insTGAGGAAGGGCTGGGGTCTGGACTCC...
XR_935783.1:n.1231+84_1231+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG
NM_012116.4:c.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG MANE Select	NP_036248.3:n.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGG...
XM_005258696.3:c.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	XP_005258753.1:n.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCC...
XM_011526688.2:c.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	XP_011524990.1:n.1284+84_1284+85insTGAGGAAGGGCTGGGGTCTGGACTCC...
XM_011526689.2:c.1146+84_1146+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG	XP_011524991.1:n.1146+84_1146+85insTGAGGAAGGGCTGGGGTCTGGACTCC...
XR_935783.2:n.1236+84_1236+85insTGAGGAAGGGCTGGGGTCTGGACTCCTGGGTCTGAG