Canonical Allele Identifier: CA2585699106

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793685-C-CCTGGACTCCTGAGTCTGAGGGAGGAAGGGCTGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793696_44793697insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG , CM000681.2:g.44793696_44793697insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	GRCh38
NC_000019.9:g.45296953_45296954insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG , CM000681.1:g.45296953_45296954insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	GRCh37
NC_000019.8:g.49988793_49988794insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	NCBI36
NG_054718.1:g.20842_20843insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG MANE Select	ENSP00000494162.1:n.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGG...
ENST00000270279.7:c.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	ENSP00000270279.3:n.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGG...
ENST00000341505.4:c.1146+76_1146+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	ENSP00000340250.4:n.1146+76_1146+77insAGTCTGAGGGAGGAAGGGCTGGG...
NM_001130852.1:c.1146+76_1146+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	NP_001124324.1:n.1146+76_1146+77insAGTCTGAGGGAGGAAGGGCTGGGGTC...
NM_012116.3:c.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	NP_036248.3:n.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGG...
XM_005258696.2:c.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	XP_005258753.1:n.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTC...
XM_011526688.1:c.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	XP_011524990.1:n.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTC...
XM_011526689.1:c.1146+76_1146+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	XP_011524991.1:n.1146+76_1146+77insAGTCTGAGGGAGGAAGGGCTGGGGTC...
XR_935783.1:n.1231+76_1231+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG
NM_012116.4:c.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG MANE Select	NP_036248.3:n.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGG...
XM_005258696.3:c.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	XP_005258753.1:n.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTC...
XM_011526688.2:c.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	XP_011524990.1:n.1284+76_1284+77insAGTCTGAGGGAGGAAGGGCTGGGGTC...
XM_011526689.2:c.1146+76_1146+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG	XP_011524991.1:n.1146+76_1146+77insAGTCTGAGGGAGGAAGGGCTGGGGTC...
XR_935783.2:n.1236+76_1236+77insAGTCTGAGGGAGGAAGGGCTGGGGTCTGGACTCCTG