Canonical Allele Identifier: CA2022722049

Gene: BCAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24828826_24828827delinsCA , CM000674.2:g.24828826_24828827delinsCA	GRCh38
NC_000012.11:g.24981760_24981761delinsCA , CM000674.1:g.24981760_24981761delinsCA	GRCh37
NC_000012.10:g.24873027_24873028delinsCA	NCBI36
NG_008170.1:g.125548_125549delinsTG
NG_008170.2:g.125548_125549delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261192.12:c.1119+996_1119+997delinsTG MANE Select	ENSP00000261192.7:n.1119+996_1119+997delinsTG
ENST00000261192.11:c.1119+996_1119+997delinsTG	ENSP00000261192.7:n.1119+996_1119+997delinsTG
ENST00000342945.9:c.936+996_936+997delinsTG	ENSP00000339805.5:n.936+996_936+997delinsTG
ENST00000538118.5:c.1116+996_1116+997delinsTG	ENSP00000440817.1:n.1116+996_1116+997delinsTG
ENST00000539282.5:c.1155+996_1155+997delinsTG	ENSP00000443459.1:n.1155+996_1155+997delinsTG
ENST00000539780.5:c.1008+996_1008+997delinsTG	ENSP00000440827.1:n.1008+996_1008+997delinsTG
ENST00000543099.1:n.174+996_174+997delinsTG
NM_001178091.1:c.1008+996_1008+997delinsTG	NP_001171562.1:n.1008+996_1008+997delinsTG
NM_001178092.1:c.936+996_936+997delinsTG	NP_001171563.1:n.936+996_936+997delinsTG
NM_001178093.1:c.1155+996_1155+997delinsTG	NP_001171564.1:n.1155+996_1155+997delinsTG
NM_001178094.1:c.1116+996_1116+997delinsTG	NP_001171565.1:n.1116+996_1116+997delinsTG
NM_005504.6:c.1119+996_1119+997delinsTG	NP_005495.2:n.1119+996_1119+997delinsTG
XM_011520810.1:c.1155+996_1155+997delinsTG	XP_011519112.1:n.1155+996_1155+997delinsTG
XR_931441.1:n.1532-1875_1532-1874delinsCA
XR_931442.1:n.1532-1875_1532-1874delinsCA
XR_931443.1:n.1439-1875_1439-1874delinsCA
XM_017019768.2:c.1221+996_1221+997delinsTG	XP_016875257.1:n.1221+996_1221+997delinsTG
XR_001748835.2:n.4171+996_4171+997delinsTG
XR_001749047.1:n.3978-1875_3978-1874delinsCA
XR_001749048.2:n.3978-1875_3978-1874delinsCA
XR_001749049.1:n.3885-1875_3885-1874delinsCA
NM_005504.7:c.1119+996_1119+997delinsTG MANE Select	NP_005495.2:n.1119+996_1119+997delinsTG
NM_001178091.2:c.1008+996_1008+997delinsTG	NP_001171562.1:n.1008+996_1008+997delinsTG
NM_001178092.2:c.936+996_936+997delinsTG	NP_001171563.1:n.936+996_936+997delinsTG
NM_001178093.2:c.1155+996_1155+997delinsTG	NP_001171564.1:n.1155+996_1155+997delinsTG
NM_001178094.2:c.1116+996_1116+997delinsTG	NP_001171565.1:n.1116+996_1116+997delinsTG