Canonical Allele Identifier: CA633315393

Gene: CBLC

Linked Data

• dbSNP Id: rs1448555933
• gnomAD v2: 19-45297037-G-GA
• gnomAD v3: 19-44793780-G-GA
• gnomAD v4: 19-44793780-G-GA
• MyVariant Identifiers: chr19:g.45297037_45297038insA (hg19) ; chr19:g.44793780_44793781insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793780_44793781insA , CM000681.2:g.44793780_44793781insA	GRCh38
NC_000019.9:g.45297037_45297038insA , CM000681.1:g.45297037_45297038insA	GRCh37
NC_000019.8:g.49988877_49988878insA	NCBI36
NG_054718.1:g.20926_20927insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+160_1284+161insA MANE Select	ENSP00000494162.1:n.1284+160_1284+161insA
ENST00000270279.7:c.1284+160_1284+161insA	ENSP00000270279.3:n.1284+160_1284+161insA
ENST00000341505.4:c.1146+160_1146+161insA	ENSP00000340250.4:n.1146+160_1146+161insA
NM_001130852.1:c.1146+160_1146+161insA	NP_001124324.1:n.1146+160_1146+161insA
NM_012116.3:c.1284+160_1284+161insA	NP_036248.3:n.1284+160_1284+161insA
XM_005258696.2:c.1284+160_1284+161insA	XP_005258753.1:n.1284+160_1284+161insA
XM_011526688.1:c.1284+160_1284+161insA	XP_011524990.1:n.1284+160_1284+161insA
XM_011526689.1:c.1146+160_1146+161insA	XP_011524991.1:n.1146+160_1146+161insA
XR_935783.1:n.1231+160_1231+161insA
NM_012116.4:c.1284+160_1284+161insA MANE Select	NP_036248.3:n.1284+160_1284+161insA
XM_005258696.3:c.1284+160_1284+161insA	XP_005258753.1:n.1284+160_1284+161insA
XM_011526688.2:c.1284+160_1284+161insA	XP_011524990.1:n.1284+160_1284+161insA
XM_011526689.2:c.1146+160_1146+161insA	XP_011524991.1:n.1146+160_1146+161insA
XR_935783.2:n.1236+160_1236+161insA