Canonical Allele Identifier: CA308901528

Gene: CBLC

Linked Data

• dbSNP Id: rs773091614
• gnomAD v3: 19-44793349-TTCCGTCTCCCTTCC-T
• gnomAD v4: 19-44793349-TTCCGTCTCCCTTCC-T
• MyVariant Identifiers: chr19:g.45296607_45296620del (hg19) ; chr19:g.44793350_44793363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793352_44793365del , CM000681.2:g.44793352_44793365del	GRCh38
NC_000019.9:g.45296609_45296622del , CM000681.1:g.45296609_45296622del	GRCh37
NC_000019.8:g.49988449_49988462del	NCBI36
NG_054718.1:g.20498_20511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1138-122_1138-109del MANE Select	ENSP00000494162.1:n.1138-122_1138-109del
ENST00000270279.7:c.1138-122_1138-109del	ENSP00000270279.3:n.1138-122_1138-109del
ENST00000341505.4:c.1000-122_1000-109del	ENSP00000340250.4:n.1000-122_1000-109del
NM_001130852.1:c.1000-122_1000-109del	NP_001124324.1:n.1000-122_1000-109del
NM_012116.3:c.1138-122_1138-109del	NP_036248.3:n.1138-122_1138-109del
XM_005258696.2:c.1138-122_1138-109del	XP_005258753.1:n.1138-122_1138-109del
XM_011526688.1:c.1138-122_1138-109del	XP_011524990.1:n.1138-122_1138-109del
XM_011526689.1:c.1000-122_1000-109del	XP_011524991.1:n.1000-122_1000-109del
XR_935783.1:n.1085-122_1085-109del
NM_012116.4:c.1138-122_1138-109del MANE Select	NP_036248.3:n.1138-122_1138-109del
XM_005258696.3:c.1138-122_1138-109del	XP_005258753.1:n.1138-122_1138-109del
XM_011526688.2:c.1138-122_1138-109del	XP_011524990.1:n.1138-122_1138-109del
XM_011526689.2:c.1000-122_1000-109del	XP_011524991.1:n.1000-122_1000-109del
XR_935783.2:n.1090-122_1090-109del