Canonical Allele Identifier: CA2338111052
Gene: CBLC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793448_44793449delinsAC , CM000681.2:g.44793448_44793449delinsAC GRCh38
NC_000019.9:g.45296705_45296706delinsAC , CM000681.1:g.45296705_45296706delinsAC GRCh37
NC_000019.8:g.49988545_49988546delinsAC NCBI36
NG_054718.1:g.20594_20595delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000647358.2:c.1138-26_1138-25delinsAC MANE Select ENSP00000494162.1:n.1138-26_1138-25delins...
ENST00000270279.7:c.1138-26_1138-25delinsAC ENSP00000270279.3:n.1138-26_1138-25delins...
ENST00000341505.4:c.1000-26_1000-25delinsAC ENSP00000340250.4:n.1000-26_1000-25delins...
NM_001130852.1:c.1000-26_1000-25delinsAC NP_001124324.1:n.1000-26_1000-25delinsAC
NM_012116.3:c.1138-26_1138-25delinsAC NP_036248.3:n.1138-26_1138-25delinsAC
XM_005258696.2:c.1138-26_1138-25delinsAC XP_005258753.1:n.1138-26_1138-25delinsAC
XM_011526688.1:c.1138-26_1138-25delinsAC XP_011524990.1:n.1138-26_1138-25delinsAC
XM_011526689.1:c.1000-26_1000-25delinsAC XP_011524991.1:n.1000-26_1000-25delinsAC
XR_935783.1:n.1085-26_1085-25delinsAC
NM_012116.4:c.1138-26_1138-25delinsAC MANE Select NP_036248.3:n.1138-26_1138-25delinsAC
XM_005258696.3:c.1138-26_1138-25delinsAC XP_005258753.1:n.1138-26_1138-25delinsAC
XM_011526688.2:c.1138-26_1138-25delinsAC XP_011524990.1:n.1138-26_1138-25delinsAC
XM_011526689.2:c.1000-26_1000-25delinsAC XP_011524991.1:n.1000-26_1000-25delinsAC
XR_935783.2:n.1090-26_1090-25delinsAC