Canonical Allele Identifier: CA2735945344
Gene: CBLC HGNC NCBI

Linked Data

dbSNP Id: rs2122495434

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793623_44793624insCCCCTTTCGGCTCCTCC , CM000681.2:g.44793623_44793624insCCCCTTTCGGCTCCTCC GRCh38
NC_000019.9:g.45296880_45296881insCCCCTTTCGGCTCCTCC , CM000681.1:g.45296880_45296881insCCCCTTTCGGCTCCTCC GRCh37
NC_000019.8:g.49988720_49988721insCCCCTTTCGGCTCCTCC NCBI36
NG_054718.1:g.20769_20770insCCCCTTTCGGCTCCTCC

Transcript Alleles

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