Canonical Allele Identifier: CA633315391

Gene: CBLC

Linked Data

• gnomAD v2: 19-45297018-GTACTCTGAGTCTAAGGGAGGAGGGCTGGGGGTCCTGGACTCC-G
• gnomAD v3: 19-44793761-GTACTCTGAGTCTAAGGGAGGAGGGCTGGGGGTCCTGGACTCC-G
• gnomAD v4: 19-44793761-GTACTCTGAGTCTAAGGGAGGAGGGCTGGGGGTCCTGGACTCC-G
• MyVariant Identifiers: chr19:g.45297019_45297060del (hg19) ; chr19:g.44793762_44793803del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793763_44793804del , CM000681.2:g.44793763_44793804del	GRCh38
NC_000019.9:g.45297020_45297061del , CM000681.1:g.45297020_45297061del	GRCh37
NC_000019.8:g.49988860_49988901del	NCBI36
NG_054718.1:g.20909_20950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+143_1284+184del MANE Select	ENSP00000494162.1:n.1284+143_1284+184del
ENST00000270279.7:c.1284+143_1284+184del	ENSP00000270279.3:n.1284+143_1284+184del
ENST00000341505.4:c.1146+143_1146+184del	ENSP00000340250.4:n.1146+143_1146+184del
NM_001130852.1:c.1146+143_1146+184del	NP_001124324.1:n.1146+143_1146+184del
NM_012116.3:c.1284+143_1284+184del	NP_036248.3:n.1284+143_1284+184del
XM_005258696.2:c.1284+143_1284+184del	XP_005258753.1:n.1284+143_1284+184del
XM_011526688.1:c.1284+143_1284+184del	XP_011524990.1:n.1284+143_1284+184del
XM_011526689.1:c.1146+143_1146+184del	XP_011524991.1:n.1146+143_1146+184del
XR_935783.1:n.1231+143_1231+184del
NM_012116.4:c.1284+143_1284+184del MANE Select	NP_036248.3:n.1284+143_1284+184del
XM_005258696.3:c.1284+143_1284+184del	XP_005258753.1:n.1284+143_1284+184del
XM_011526688.2:c.1284+143_1284+184del	XP_011524990.1:n.1284+143_1284+184del
XM_011526689.2:c.1146+143_1146+184del	XP_011524991.1:n.1146+143_1146+184del
XR_935783.2:n.1236+143_1236+184del