Canonical Allele Identifier: CA2022721840

Gene: BCAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24828598_24828601delinsGTGT , CM000674.2:g.24828598_24828601delinsGTGT	GRCh38
NC_000012.11:g.24981532_24981535delinsGTGT , CM000674.1:g.24981532_24981535delinsGTGT	GRCh37
NC_000012.10:g.24872799_24872802delinsGTGT	NCBI36
NG_008170.1:g.125774_125777delinsACAC
NG_008170.2:g.125774_125777delinsACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261192.12:c.1119+1222_1119+1225delinsACAC MANE Select	ENSP00000261192.7:n.1119+1222_1119+1225delinsACAC
ENST00000261192.11:c.1119+1222_1119+1225delinsACAC	ENSP00000261192.7:n.1119+1222_1119+1225delinsACAC
ENST00000342945.9:c.936+1222_936+1225delinsACAC	ENSP00000339805.5:n.936+1222_936+1225delinsACAC
ENST00000538118.5:c.1116+1222_1116+1225delinsACAC	ENSP00000440817.1:n.1116+1222_1116+1225delinsACAC
ENST00000539282.5:c.1155+1222_1155+1225delinsACAC	ENSP00000443459.1:n.1155+1222_1155+1225delinsACAC
ENST00000539780.5:c.1008+1222_1008+1225delinsACAC	ENSP00000440827.1:n.1008+1222_1008+1225delinsACAC
ENST00000543099.1:n.174+1222_174+1225delinsACAC
NM_001178091.1:c.1008+1222_1008+1225delinsACAC	NP_001171562.1:n.1008+1222_1008+1225delinsACAC
NM_001178092.1:c.936+1222_936+1225delinsACAC	NP_001171563.1:n.936+1222_936+1225delinsACAC
NM_001178093.1:c.1155+1222_1155+1225delinsACAC	NP_001171564.1:n.1155+1222_1155+1225delinsACAC
NM_001178094.1:c.1116+1222_1116+1225delinsACAC	NP_001171565.1:n.1116+1222_1116+1225delinsACAC
NM_005504.6:c.1119+1222_1119+1225delinsACAC	NP_005495.2:n.1119+1222_1119+1225delinsACAC
XM_011520810.1:c.1155+1222_1155+1225delinsACAC	XP_011519112.1:n.1155+1222_1155+1225delinsACAC
XR_931441.1:n.1532-2103_1532-2100delinsGTGT
XR_931442.1:n.1532-2103_1532-2100delinsGTGT
XR_931443.1:n.1439-2103_1439-2100delinsGTGT
XM_017019768.2:c.1221+1222_1221+1225delinsACAC	XP_016875257.1:n.1221+1222_1221+1225delinsACAC
XR_001748835.2:n.4171+1222_4171+1225delinsACAC
XR_001749047.1:n.3978-2103_3978-2100delinsGTGT
XR_001749048.2:n.3978-2103_3978-2100delinsGTGT
XR_001749049.1:n.3885-2103_3885-2100delinsGTGT
NM_005504.7:c.1119+1222_1119+1225delinsACAC MANE Select	NP_005495.2:n.1119+1222_1119+1225delinsACAC
NM_001178091.2:c.1008+1222_1008+1225delinsACAC	NP_001171562.1:n.1008+1222_1008+1225delinsACAC
NM_001178092.2:c.936+1222_936+1225delinsACAC	NP_001171563.1:n.936+1222_936+1225delinsACAC
NM_001178093.2:c.1155+1222_1155+1225delinsACAC	NP_001171564.1:n.1155+1222_1155+1225delinsACAC
NM_001178094.2:c.1116+1222_1116+1225delinsACAC	NP_001171565.1:n.1116+1222_1116+1225delinsACAC