Canonical Allele Identifier: CA2022721763

Gene: BCAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24828524_24828526delinsATG , CM000674.2:g.24828524_24828526delinsATG	GRCh38
NC_000012.11:g.24981458_24981460delinsATG , CM000674.1:g.24981458_24981460delinsATG	GRCh37
NC_000012.10:g.24872725_24872727delinsATG	NCBI36
NG_008170.1:g.125849_125851delinsCAT
NG_008170.2:g.125849_125851delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261192.12:c.1119+1297_1119+1299delinsCAT MANE Select	ENSP00000261192.7:n.1119+1297_1119+1299delinsCAT
ENST00000261192.11:c.1119+1297_1119+1299delinsCAT	ENSP00000261192.7:n.1119+1297_1119+1299delinsCAT
ENST00000342945.9:c.936+1297_936+1299delinsCAT	ENSP00000339805.5:n.936+1297_936+1299delinsCAT
ENST00000538118.5:c.1116+1297_1116+1299delinsCAT	ENSP00000440817.1:n.1116+1297_1116+1299delinsCAT
ENST00000539282.5:c.1155+1297_1155+1299delinsCAT	ENSP00000443459.1:n.1155+1297_1155+1299delinsCAT
ENST00000539780.5:c.1008+1297_1008+1299delinsCAT	ENSP00000440827.1:n.1008+1297_1008+1299delinsCAT
ENST00000543099.1:n.174+1297_174+1299delinsCAT
NM_001178091.1:c.1008+1297_1008+1299delinsCAT	NP_001171562.1:n.1008+1297_1008+1299delinsCAT
NM_001178092.1:c.936+1297_936+1299delinsCAT	NP_001171563.1:n.936+1297_936+1299delinsCAT
NM_001178093.1:c.1155+1297_1155+1299delinsCAT	NP_001171564.1:n.1155+1297_1155+1299delinsCAT
NM_001178094.1:c.1116+1297_1116+1299delinsCAT	NP_001171565.1:n.1116+1297_1116+1299delinsCAT
NM_005504.6:c.1119+1297_1119+1299delinsCAT	NP_005495.2:n.1119+1297_1119+1299delinsCAT
XM_011520810.1:c.1155+1297_1155+1299delinsCAT	XP_011519112.1:n.1155+1297_1155+1299delinsCAT
XR_931441.1:n.1532-2177_1532-2175delinsATG
XR_931442.1:n.1532-2177_1532-2175delinsATG
XR_931443.1:n.1439-2177_1439-2175delinsATG
XM_017019768.2:c.1221+1297_1221+1299delinsCAT	XP_016875257.1:n.1221+1297_1221+1299delinsCAT
XR_001748835.2:n.4171+1297_4171+1299delinsCAT
XR_001749047.1:n.3978-2177_3978-2175delinsATG
XR_001749048.2:n.3978-2177_3978-2175delinsATG
XR_001749049.1:n.3885-2177_3885-2175delinsATG
NM_005504.7:c.1119+1297_1119+1299delinsCAT MANE Select	NP_005495.2:n.1119+1297_1119+1299delinsCAT
NM_001178091.2:c.1008+1297_1008+1299delinsCAT	NP_001171562.1:n.1008+1297_1008+1299delinsCAT
NM_001178092.2:c.936+1297_936+1299delinsCAT	NP_001171563.1:n.936+1297_936+1299delinsCAT
NM_001178093.2:c.1155+1297_1155+1299delinsCAT	NP_001171564.1:n.1155+1297_1155+1299delinsCAT
NM_001178094.2:c.1116+1297_1116+1299delinsCAT	NP_001171565.1:n.1116+1297_1116+1299delinsCAT