Canonical Allele Identifier: CA234211565
Gene: BCAT1 HGNC NCBI

Linked Data

dbSNP Id: rs374144843

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24828716del , CM000674.2:g.24828716del GRCh38
NC_000012.11:g.24981650del , CM000674.1:g.24981650del GRCh37
NC_000012.10:g.24872917del NCBI36
NG_008170.1:g.125662del
NG_008170.2:g.125662del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261192.12:c.1119+1110del MANE Select ENSP00000261192.7:n.1119+1110del
ENST00000261192.11:c.1119+1110del ENSP00000261192.7:n.1119+1110del
ENST00000342945.9:c.936+1110del ENSP00000339805.5:n.936+1110del
ENST00000538118.5:c.1116+1110del ENSP00000440817.1:n.1116+1110del
ENST00000539282.5:c.1155+1110del ENSP00000443459.1:n.1155+1110del
ENST00000539780.5:c.1008+1110del ENSP00000440827.1:n.1008+1110del
ENST00000543099.1:n.174+1110del
NM_001178091.1:c.1008+1110del NP_001171562.1:n.1008+1110del
NM_001178092.1:c.936+1110del NP_001171563.1:n.936+1110del
NM_001178093.1:c.1155+1110del NP_001171564.1:n.1155+1110del
NM_001178094.1:c.1116+1110del NP_001171565.1:n.1116+1110del
NM_005504.6:c.1119+1110del NP_005495.2:n.1119+1110del
XM_011520810.1:c.1155+1110del XP_011519112.1:n.1155+1110del
XR_931441.1:n.1532-1985del
XR_931442.1:n.1532-1985del
XR_931443.1:n.1439-1985del
XM_017019768.2:c.1221+1110del XP_016875257.1:n.1221+1110del
XR_001748835.2:n.4171+1110del
XR_001749047.1:n.3978-1985del
XR_001749048.2:n.3978-1985del
XR_001749049.1:n.3885-1985del
NM_005504.7:c.1119+1110del MANE Select NP_005495.2:n.1119+1110del
NM_001178091.2:c.1008+1110del NP_001171562.1:n.1008+1110del
NM_001178092.2:c.936+1110del NP_001171563.1:n.936+1110del
NM_001178093.2:c.1155+1110del NP_001171564.1:n.1155+1110del
NM_001178094.2:c.1116+1110del NP_001171565.1:n.1116+1110del