Canonical Allele Identifier: CA2022721787
Gene: BCAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24828556_24828575delinsTGGTACATCAATATAATGGA , CM000674.2:g.24828556_24828575delinsTGGTACATCAATATAATGGA GRCh38
NC_000012.11:g.24981490_24981509delinsTGGTACATCAATATAATGGA , CM000674.1:g.24981490_24981509delinsTGGTACATCAATATAATGGA GRCh37
NC_000012.10:g.24872757_24872776delinsTGGTACATCAATATAATGGA NCBI36
NG_008170.1:g.125800_125819delinsTCCATTATATTGATGTACCA
NG_008170.2:g.125800_125819delinsTCCATTATATTGATGTACCA

Transcript Alleles

HGVS Amino-acid change
ENST00000261192.12:c.1119+1248_1119+1267delinsTCCATTATATTGATGTACCA MANE Select ENSP00000261192.7:n.1119+1248_1119+1267de...
ENST00000261192.11:c.1119+1248_1119+1267delinsTCCATTATATTGATGTACCA ENSP00000261192.7:n.1119+1248_1119+1267de...
ENST00000342945.9:c.936+1248_936+1267delinsTCCATTATATTGATGTACCA ENSP00000339805.5:n.936+1248_936+1267deli...
ENST00000538118.5:c.1116+1248_1116+1267delinsTCCATTATATTGATGTACCA ENSP00000440817.1:n.1116+1248_1116+1267de...
ENST00000539282.5:c.1155+1248_1155+1267delinsTCCATTATATTGATGTACCA ENSP00000443459.1:n.1155+1248_1155+1267de...
ENST00000539780.5:c.1008+1248_1008+1267delinsTCCATTATATTGATGTACCA ENSP00000440827.1:n.1008+1248_1008+1267de...
ENST00000543099.1:n.174+1248_174+1267delinsTCCATTATATTGATGTACCA
NM_001178091.1:c.1008+1248_1008+1267delinsTCCATTATATTGATGTACCA NP_001171562.1:n.1008+1248_1008+1267delin...
NM_001178092.1:c.936+1248_936+1267delinsTCCATTATATTGATGTACCA NP_001171563.1:n.936+1248_936+1267delinsT...
NM_001178093.1:c.1155+1248_1155+1267delinsTCCATTATATTGATGTACCA NP_001171564.1:n.1155+1248_1155+1267delin...
NM_001178094.1:c.1116+1248_1116+1267delinsTCCATTATATTGATGTACCA NP_001171565.1:n.1116+1248_1116+1267delin...
NM_005504.6:c.1119+1248_1119+1267delinsTCCATTATATTGATGTACCA NP_005495.2:n.1119+1248_1119+1267delinsTC...
XM_011520810.1:c.1155+1248_1155+1267delinsTCCATTATATTGATGTACCA XP_011519112.1:n.1155+1248_1155+1267delin...
XR_931441.1:n.1532-2145_1532-2126delinsTGGTACATCAATATAATGGA
XR_931442.1:n.1532-2145_1532-2126delinsTGGTACATCAATATAATGGA
XR_931443.1:n.1439-2145_1439-2126delinsTGGTACATCAATATAATGGA
XM_017019768.2:c.1221+1248_1221+1267delinsTCCATTATATTGATGTACCA XP_016875257.1:n.1221+1248_1221+1267delin...
XR_001748835.2:n.4171+1248_4171+1267delinsTCCATTATATTGATGTACCA
XR_001749047.1:n.3978-2145_3978-2126delinsTGGTACATCAATATAATGGA
XR_001749048.2:n.3978-2145_3978-2126delinsTGGTACATCAATATAATGGA
XR_001749049.1:n.3885-2145_3885-2126delinsTGGTACATCAATATAATGGA
NM_005504.7:c.1119+1248_1119+1267delinsTCCATTATATTGATGTACCA MANE Select NP_005495.2:n.1119+1248_1119+1267delinsTC...
NM_001178091.2:c.1008+1248_1008+1267delinsTCCATTATATTGATGTACCA NP_001171562.1:n.1008+1248_1008+1267delin...
NM_001178092.2:c.936+1248_936+1267delinsTCCATTATATTGATGTACCA NP_001171563.1:n.936+1248_936+1267delinsT...
NM_001178093.2:c.1155+1248_1155+1267delinsTCCATTATATTGATGTACCA NP_001171564.1:n.1155+1248_1155+1267delin...
NM_001178094.2:c.1116+1248_1116+1267delinsTCCATTATATTGATGTACCA NP_001171565.1:n.1116+1248_1116+1267delin...