Canonical Allele Identifier: CA2585699095

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793683-A-ACCCTGGACTCCTGGGTCTGAGGGAGGAAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793683_44793684insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG , CM000681.2:g.44793683_44793684insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	GRCh38
NC_000019.9:g.45296940_45296941insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG , CM000681.1:g.45296940_45296941insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	GRCh37
NC_000019.8:g.49988780_49988781insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	NCBI36
NG_054718.1:g.20829_20830insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG MANE Select	ENSP00000494162.1:n.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGG...
ENST00000270279.7:c.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	ENSP00000270279.3:n.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGG...
ENST00000341505.4:c.1146+63_1146+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	ENSP00000340250.4:n.1146+63_1146+64insCCCTGGACTCCTGGGTCTGAGGG...
NM_001130852.1:c.1146+63_1146+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	NP_001124324.1:n.1146+63_1146+64insCCCTGGACTCCTGGGTCTGAGGGAGG...
NM_012116.3:c.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	NP_036248.3:n.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAG...
XM_005258696.2:c.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	XP_005258753.1:n.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGG...
XM_011526688.1:c.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	XP_011524990.1:n.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGG...
XM_011526689.1:c.1146+63_1146+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	XP_011524991.1:n.1146+63_1146+64insCCCTGGACTCCTGGGTCTGAGGGAGG...
XR_935783.1:n.1231+63_1231+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG
NM_012116.4:c.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG MANE Select	NP_036248.3:n.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAG...
XM_005258696.3:c.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	XP_005258753.1:n.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGG...
XM_011526688.2:c.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	XP_011524990.1:n.1284+63_1284+64insCCCTGGACTCCTGGGTCTGAGGGAGG...
XM_011526689.2:c.1146+63_1146+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG	XP_011524991.1:n.1146+63_1146+64insCCCTGGACTCCTGGGTCTGAGGGAGG...
XR_935783.2:n.1236+63_1236+64insCCCTGGACTCCTGGGTCTGAGGGAGGAAGG