Canonical Allele Identifier: CA2338111062
Gene: CBLC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793466_44793467delinsTC , CM000681.2:g.44793466_44793467delinsTC GRCh38
NC_000019.9:g.45296723_45296724delinsTC , CM000681.1:g.45296723_45296724delinsTC GRCh37
NC_000019.8:g.49988563_49988564delinsTC NCBI36
NG_054718.1:g.20612_20613delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000647358.2:c.1138-8_1138-7delinsTC MANE Select ENSP00000494162.1:n.1138-8_1138-7delinsTC...
ENST00000270279.7:c.1138-8_1138-7delinsTC ENSP00000270279.3:n.1138-8_1138-7delinsTC...
ENST00000341505.4:c.1000-8_1000-7delinsTC ENSP00000340250.4:n.1000-8_1000-7delinsTC...
NM_001130852.1:c.1000-8_1000-7delinsTC NP_001124324.1:n.1000-8_1000-7delinsTC
NM_012116.3:c.1138-8_1138-7delinsTC NP_036248.3:n.1138-8_1138-7delinsTC
XM_005258696.2:c.1138-8_1138-7delinsTC XP_005258753.1:n.1138-8_1138-7delinsTC
XM_011526688.1:c.1138-8_1138-7delinsTC XP_011524990.1:n.1138-8_1138-7delinsTC
XM_011526689.1:c.1000-8_1000-7delinsTC XP_011524991.1:n.1000-8_1000-7delinsTC
XR_935783.1:n.1085-8_1085-7delinsTC
NM_012116.4:c.1138-8_1138-7delinsTC MANE Select NP_036248.3:n.1138-8_1138-7delinsTC
XM_005258696.3:c.1138-8_1138-7delinsTC XP_005258753.1:n.1138-8_1138-7delinsTC
XM_011526688.2:c.1138-8_1138-7delinsTC XP_011524990.1:n.1138-8_1138-7delinsTC
XM_011526689.2:c.1000-8_1000-7delinsTC XP_011524991.1:n.1000-8_1000-7delinsTC
XR_935783.2:n.1090-8_1090-7delinsTC