Canonical Allele Identifier: CA996238797

Gene: CBLC

Linked Data

• gnomAD v3: 19-44793788-GGGGGTCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTA-G
• gnomAD v4: 19-44793788-GGGGGTCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793793_44793830del , CM000681.2:g.44793793_44793830del	GRCh38
NC_000019.9:g.45297050_45297087del , CM000681.1:g.45297050_45297087del	GRCh37
NC_000019.8:g.49988890_49988927del	NCBI36
NG_054718.1:g.20939_20976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+173_1284+210del MANE Select	ENSP00000494162.1:n.1284+173_1284+210del
ENST00000270279.7:c.1284+173_1284+210del	ENSP00000270279.3:n.1284+173_1284+210del
ENST00000341505.4:c.1146+173_1146+210del	ENSP00000340250.4:n.1146+173_1146+210del
NM_001130852.1:c.1146+173_1146+210del	NP_001124324.1:n.1146+173_1146+210del
NM_012116.3:c.1284+173_1284+210del	NP_036248.3:n.1284+173_1284+210del
XM_005258696.2:c.1284+173_1284+210del	XP_005258753.1:n.1284+173_1284+210del
XM_011526688.1:c.1284+173_1284+210del	XP_011524990.1:n.1284+173_1284+210del
XM_011526689.1:c.1146+173_1146+210del	XP_011524991.1:n.1146+173_1146+210del
XR_935783.1:n.1231+173_1231+210del
NM_012116.4:c.1284+173_1284+210del MANE Select	NP_036248.3:n.1284+173_1284+210del
XM_005258696.3:c.1284+173_1284+210del	XP_005258753.1:n.1284+173_1284+210del
XM_011526688.2:c.1284+173_1284+210del	XP_011524990.1:n.1284+173_1284+210del
XM_011526689.2:c.1146+173_1146+210del	XP_011524991.1:n.1146+173_1146+210del
XR_935783.2:n.1236+173_1236+210del