Canonical Allele Identifier: CA633315402

Gene: CBLC

Linked Data

• dbSNP Id: rs1968116883
• gnomAD v2: 19-45297050-TCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTAGGGGCCTGGACTCCTGGGTCTGATGGAGGTGGGTATGGGGAC-T
• gnomAD v3: 19-44793793-TCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTAGGGGCCTGGACTCCTGGGTCTGATGGAGGTGGGTATGGGGAC-T
• gnomAD v4: 19-44793793-TCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTAGGGGCCTGGACTCCTGGGTCTGATGGAGGTGGGTATGGGGAC-T
• MyVariant Identifiers: chr19:g.45297051_45297125del (hg19) ; chr19:g.44793794_44793868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793795_44793869del , CM000681.2:g.44793795_44793869del	GRCh38
NC_000019.9:g.45297052_45297126del , CM000681.1:g.45297052_45297126del	GRCh37
NC_000019.8:g.49988892_49988966del	NCBI36
NG_054718.1:g.20941_21015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+175_1284+249del MANE Select	ENSP00000494162.1:n.1284+175_1284+249del
ENST00000270279.7:c.1284+175_1284+249del	ENSP00000270279.3:n.1284+175_1284+249del
ENST00000341505.4:c.1146+175_1146+249del	ENSP00000340250.4:n.1146+175_1146+249del
NM_001130852.1:c.1146+175_1146+249del	NP_001124324.1:n.1146+175_1146+249del
NM_012116.3:c.1284+175_1284+249del	NP_036248.3:n.1284+175_1284+249del
XM_005258696.2:c.1284+175_1285-238del	XP_005258753.1:n.1284+175_1285-238del
XM_011526688.1:c.1284+175_1284+249del	XP_011524990.1:n.1284+175_1284+249del
XM_011526689.1:c.1146+175_1146+249del	XP_011524991.1:n.1146+175_1146+249del
XR_935783.1:n.1231+175_1231+249del
NM_012116.4:c.1284+175_1284+249del MANE Select	NP_036248.3:n.1284+175_1284+249del
XM_005258696.3:c.1284+175_1285-238del	XP_005258753.1:n.1284+175_1285-238del
XM_011526688.2:c.1284+175_1284+249del	XP_011524990.1:n.1284+175_1284+249del
XM_011526689.2:c.1146+175_1146+249del	XP_011524991.1:n.1146+175_1146+249del
XR_935783.2:n.1236+175_1236+249del