Canonical Allele Identifier: CA2067187027
Gene: BICDL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120018001_120018013delinsCCTTTGGTTTCAT , CM000674.2:g.120018001_120018013delinsCCTTTGGTTTCAT GRCh38
NC_000012.11:g.120455805_120455817delinsCCTTTGGTTTCAT , CM000674.1:g.120455805_120455817delinsCCTTTGGTTTCAT GRCh37
NC_000012.10:g.118940188_118940200delinsCCTTTGGTTTCAT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000548673.6:c.645+19265_645+19277delinsCCTTTGGTTTCAT MANE Select ENSP00000447477.2:n.645+19265_645+19277de...
ENST00000397558.6:c.645+19265_645+19277delinsCCTTTGGTTTCAT ENSP00000380690.2:n.645+19265_645+19277de...
ENST00000546420.5:c.786+18089_786+18101delinsCCTTTGGTTTCAT
NM_207311.2:c.645+19265_645+19277delinsCCTTTGGTTTCAT NP_997194.2:n.645+19265_645+19277delinsCC...
XM_005253991.3:c.645+19265_645+19277delinsCCTTTGGTTTCAT XP_005254048.1:n.645+19265_645+19277delin...
XM_006719694.2:c.645+19265_645+19277delinsCCTTTGGTTTCAT XP_006719757.1:n.645+19265_645+19277delin...
XM_006719696.2:c.645+19265_645+19277delinsCCTTTGGTTTCAT XP_006719759.1:n.645+19265_645+19277delin...
XM_006719697.2:c.645+19265_645+19277delinsCCTTTGGTTTCAT XP_006719760.1:n.645+19265_645+19277delin...
XM_011538999.1:c.645+19265_645+19277delinsCCTTTGGTTTCAT XP_011537301.1:n.645+19265_645+19277delin...
XM_011539000.1:c.33+18089_33+18101delinsCCTTTGGTTTCAT XP_011537302.1:n.33+18089_33+18101delinsC...
XR_944834.1:n.705+19265_705+19277delinsCCTTTGGTTTCAT
XR_944836.1:n.705+19265_705+19277delinsCCTTTGGTTTCAT
NR_147892.1:n.670+19265_670+19277delinsCCTTTGGTTTCAT
NR_147893.1:n.670+19265_670+19277delinsCCTTTGGTTTCAT
NR_147894.1:n.822+18089_822+18101delinsCCTTTGGTTTCAT
XM_005253991.4:c.645+19265_645+19277delinsCCTTTGGTTTCAT XP_005254048.1:n.645+19265_645+19277delin...
XM_006719694.3:c.645+19265_645+19277delinsCCTTTGGTTTCAT XP_006719757.1:n.645+19265_645+19277delin...
XM_006719696.3:c.645+19265_645+19277delinsCCTTTGGTTTCAT XP_006719759.1:n.645+19265_645+19277delin...
XM_006719697.3:c.645+19265_645+19277delinsCCTTTGGTTTCAT XP_006719760.1:n.645+19265_645+19277delin...
XM_011538999.2:c.645+19265_645+19277delinsCCTTTGGTTTCAT XP_011537301.1:n.645+19265_645+19277delin...
XM_011539000.2:c.33+18089_33+18101delinsCCTTTGGTTTCAT XP_011537302.1:n.33+18089_33+18101delinsC...
XR_001748923.1:n.698+19265_698+19277delinsCCTTTGGTTTCAT
XR_944834.2:n.699+19265_699+19277delinsCCTTTGGTTTCAT
XR_944836.3:n.699+19265_699+19277delinsCCTTTGGTTTCAT
NM_001367886.1:c.645+19265_645+19277delinsCCTTTGGTTTCAT MANE Select NP_001354815.1:n.645+19265_645+19277delin...