Canonical Allele Identifier: CA2022721723
Gene: BCAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24828481_24828491delinsTGTACTGTCCA , CM000674.2:g.24828481_24828491delinsTGTACTGTCCA GRCh38
NC_000012.11:g.24981415_24981425delinsTGTACTGTCCA , CM000674.1:g.24981415_24981425delinsTGTACTGTCCA GRCh37
NC_000012.10:g.24872682_24872692delinsTGTACTGTCCA NCBI36
NG_008170.1:g.125884_125894delinsTGGACAGTACA
NG_008170.2:g.125884_125894delinsTGGACAGTACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261192.12:c.1119+1332_1119+1342delinsTGGACAGTACA MANE Select ENSP00000261192.7:n.1119+1332_1119+1342delinsTGGACAGTACA
ENST00000261192.11:c.1119+1332_1119+1342delinsTGGACAGTACA ENSP00000261192.7:n.1119+1332_1119+1342delinsTGGACAGTACA
ENST00000342945.9:c.936+1332_936+1342delinsTGGACAGTACA ENSP00000339805.5:n.936+1332_936+1342delinsTGGACAGTACA
ENST00000538118.5:c.1116+1332_1116+1342delinsTGGACAGTACA ENSP00000440817.1:n.1116+1332_1116+1342delinsTGGACAGTACA
ENST00000539282.5:c.1155+1332_1155+1342delinsTGGACAGTACA ENSP00000443459.1:n.1155+1332_1155+1342delinsTGGACAGTACA
ENST00000539780.5:c.1008+1332_1008+1342delinsTGGACAGTACA ENSP00000440827.1:n.1008+1332_1008+1342delinsTGGACAGTACA
ENST00000543099.1:n.174+1332_174+1342delinsTGGACAGTACA
NM_001178091.1:c.1008+1332_1008+1342delinsTGGACAGTACA NP_001171562.1:n.1008+1332_1008+1342delinsTGGACAGTACA
NM_001178092.1:c.936+1332_936+1342delinsTGGACAGTACA NP_001171563.1:n.936+1332_936+1342delinsTGGACAGTACA
NM_001178093.1:c.1155+1332_1155+1342delinsTGGACAGTACA NP_001171564.1:n.1155+1332_1155+1342delinsTGGACAGTACA
NM_001178094.1:c.1116+1332_1116+1342delinsTGGACAGTACA NP_001171565.1:n.1116+1332_1116+1342delinsTGGACAGTACA
NM_005504.6:c.1119+1332_1119+1342delinsTGGACAGTACA NP_005495.2:n.1119+1332_1119+1342delinsTGGACAGTACA
XM_011520810.1:c.1155+1332_1155+1342delinsTGGACAGTACA XP_011519112.1:n.1155+1332_1155+1342delinsTGGACAGTACA
XR_931441.1:n.1532-2220_1532-2210delinsTGTACTGTCCA
XR_931442.1:n.1532-2220_1532-2210delinsTGTACTGTCCA
XR_931443.1:n.1439-2220_1439-2210delinsTGTACTGTCCA
XM_017019768.2:c.1221+1332_1221+1342delinsTGGACAGTACA XP_016875257.1:n.1221+1332_1221+1342delinsTGGACAGTACA
XR_001748835.2:n.4171+1332_4171+1342delinsTGGACAGTACA
XR_001749047.1:n.3978-2220_3978-2210delinsTGTACTGTCCA
XR_001749048.2:n.3978-2220_3978-2210delinsTGTACTGTCCA
XR_001749049.1:n.3885-2220_3885-2210delinsTGTACTGTCCA
NM_005504.7:c.1119+1332_1119+1342delinsTGGACAGTACA MANE Select NP_005495.2:n.1119+1332_1119+1342delinsTGGACAGTACA
NM_001178091.2:c.1008+1332_1008+1342delinsTGGACAGTACA NP_001171562.1:n.1008+1332_1008+1342delinsTGGACAGTACA
NM_001178092.2:c.936+1332_936+1342delinsTGGACAGTACA NP_001171563.1:n.936+1332_936+1342delinsTGGACAGTACA
NM_001178093.2:c.1155+1332_1155+1342delinsTGGACAGTACA NP_001171564.1:n.1155+1332_1155+1342delinsTGGACAGTACA
NM_001178094.2:c.1116+1332_1116+1342delinsTGGACAGTACA NP_001171565.1:n.1116+1332_1116+1342delinsTGGACAGTACA