Canonical Allele Identifier: CA2022721925
Gene: BCAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24828712_24828713delinsTA , CM000674.2:g.24828712_24828713delinsTA GRCh38
NC_000012.11:g.24981646_24981647delinsTA , CM000674.1:g.24981646_24981647delinsTA GRCh37
NC_000012.10:g.24872913_24872914delinsTA NCBI36
NG_008170.1:g.125662_125663delinsTA
NG_008170.2:g.125662_125663delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261192.12:c.1119+1110_1119+1111delinsTA MANE Select ENSP00000261192.7:n.1119+1110_1119+1111delinsTA
ENST00000261192.11:c.1119+1110_1119+1111delinsTA ENSP00000261192.7:n.1119+1110_1119+1111delinsTA
ENST00000342945.9:c.936+1110_936+1111delinsTA ENSP00000339805.5:n.936+1110_936+1111delinsTA
ENST00000538118.5:c.1116+1110_1116+1111delinsTA ENSP00000440817.1:n.1116+1110_1116+1111delinsTA
ENST00000539282.5:c.1155+1110_1155+1111delinsTA ENSP00000443459.1:n.1155+1110_1155+1111delinsTA
ENST00000539780.5:c.1008+1110_1008+1111delinsTA ENSP00000440827.1:n.1008+1110_1008+1111delinsTA
ENST00000543099.1:n.174+1110_174+1111delinsTA
NM_001178091.1:c.1008+1110_1008+1111delinsTA NP_001171562.1:n.1008+1110_1008+1111delinsTA
NM_001178092.1:c.936+1110_936+1111delinsTA NP_001171563.1:n.936+1110_936+1111delinsTA
NM_001178093.1:c.1155+1110_1155+1111delinsTA NP_001171564.1:n.1155+1110_1155+1111delinsTA
NM_001178094.1:c.1116+1110_1116+1111delinsTA NP_001171565.1:n.1116+1110_1116+1111delinsTA
NM_005504.6:c.1119+1110_1119+1111delinsTA NP_005495.2:n.1119+1110_1119+1111delinsTA
XM_011520810.1:c.1155+1110_1155+1111delinsTA XP_011519112.1:n.1155+1110_1155+1111delinsTA
XR_931441.1:n.1532-1989_1532-1988delinsTA
XR_931442.1:n.1532-1989_1532-1988delinsTA
XR_931443.1:n.1439-1989_1439-1988delinsTA
XM_017019768.2:c.1221+1110_1221+1111delinsTA XP_016875257.1:n.1221+1110_1221+1111delinsTA
XR_001748835.2:n.4171+1110_4171+1111delinsTA
XR_001749047.1:n.3978-1989_3978-1988delinsTA
XR_001749048.2:n.3978-1989_3978-1988delinsTA
XR_001749049.1:n.3885-1989_3885-1988delinsTA
NM_005504.7:c.1119+1110_1119+1111delinsTA MANE Select NP_005495.2:n.1119+1110_1119+1111delinsTA
NM_001178091.2:c.1008+1110_1008+1111delinsTA NP_001171562.1:n.1008+1110_1008+1111delinsTA
NM_001178092.2:c.936+1110_936+1111delinsTA NP_001171563.1:n.936+1110_936+1111delinsTA
NM_001178093.2:c.1155+1110_1155+1111delinsTA NP_001171564.1:n.1155+1110_1155+1111delinsTA
NM_001178094.2:c.1116+1110_1116+1111delinsTA NP_001171565.1:n.1116+1110_1116+1111delinsTA