Canonical Allele Identifier: CA2726033552

Gene: BCAT1

Linked Data

• dbSNP Id: rs2139362754

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24828741_24828747del , CM000674.2:g.24828741_24828747del	GRCh38
NC_000012.11:g.24981675_24981681del , CM000674.1:g.24981675_24981681del	GRCh37
NC_000012.10:g.24872942_24872948del	NCBI36
NG_008170.1:g.125632_125638del
NG_008170.2:g.125632_125638del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261192.12:c.1119+1080_1119+1086del MANE Select	ENSP00000261192.7:n.1119+1080_1119+1086de...
ENST00000261192.11:c.1119+1080_1119+1086del	ENSP00000261192.7:n.1119+1080_1119+1086de...
ENST00000342945.9:c.936+1080_936+1086del	ENSP00000339805.5:n.936+1080_936+1086del
ENST00000538118.5:c.1116+1080_1116+1086del	ENSP00000440817.1:n.1116+1080_1116+1086de...
ENST00000539282.5:c.1155+1080_1155+1086del	ENSP00000443459.1:n.1155+1080_1155+1086de...
ENST00000539780.5:c.1008+1080_1008+1086del	ENSP00000440827.1:n.1008+1080_1008+1086de...
ENST00000543099.1:n.174+1080_174+1086del
NM_001178091.1:c.1008+1080_1008+1086del	NP_001171562.1:n.1008+1080_1008+1086del
NM_001178092.1:c.936+1080_936+1086del	NP_001171563.1:n.936+1080_936+1086del
NM_001178093.1:c.1155+1080_1155+1086del	NP_001171564.1:n.1155+1080_1155+1086del
NM_001178094.1:c.1116+1080_1116+1086del	NP_001171565.1:n.1116+1080_1116+1086del
NM_005504.6:c.1119+1080_1119+1086del	NP_005495.2:n.1119+1080_1119+1086del
XM_011520810.1:c.1155+1080_1155+1086del	XP_011519112.1:n.1155+1080_1155+1086del
XR_931441.1:n.1532-1960_1532-1954del
XR_931442.1:n.1532-1960_1532-1954del
XR_931443.1:n.1439-1960_1439-1954del
XM_017019768.2:c.1221+1080_1221+1086del	XP_016875257.1:n.1221+1080_1221+1086del
XR_001748835.2:n.4171+1080_4171+1086del
XR_001749047.1:n.3978-1960_3978-1954del
XR_001749048.2:n.3978-1960_3978-1954del
XR_001749049.1:n.3885-1960_3885-1954del
NM_005504.7:c.1119+1080_1119+1086del MANE Select	NP_005495.2:n.1119+1080_1119+1086del
NM_001178091.2:c.1008+1080_1008+1086del	NP_001171562.1:n.1008+1080_1008+1086del
NM_001178092.2:c.936+1080_936+1086del	NP_001171563.1:n.936+1080_936+1086del
NM_001178093.2:c.1155+1080_1155+1086del	NP_001171564.1:n.1155+1080_1155+1086del
NM_001178094.2:c.1116+1080_1116+1086del	NP_001171565.1:n.1116+1080_1116+1086del