Canonical Allele Identifier: CA234211374

Gene: BCAT1

Linked Data

• dbSNP Id: rs992511573
• gnomAD v3: 12-24828499-GA-G
• gnomAD v4: 12-24828499-GA-G
• MyVariant Identifiers: chr12:g.24981434del (hg19) ; chr12:g.24828500del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.24828508del , CM000674.2:g.24828508del	GRCh38
NC_000012.11:g.24981442del , CM000674.1:g.24981442del	GRCh37
NC_000012.10:g.24872709del	NCBI36
NG_008170.1:g.125875del
NG_008170.2:g.125875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261192.12:c.1119+1323del MANE Select	ENSP00000261192.7:n.1119+1323del
ENST00000261192.11:c.1119+1323del	ENSP00000261192.7:n.1119+1323del
ENST00000342945.9:c.936+1323del	ENSP00000339805.5:n.936+1323del
ENST00000538118.5:c.1116+1323del	ENSP00000440817.1:n.1116+1323del
ENST00000539282.5:c.1155+1323del	ENSP00000443459.1:n.1155+1323del
ENST00000539780.5:c.1008+1323del	ENSP00000440827.1:n.1008+1323del
ENST00000543099.1:n.174+1323del
NM_001178091.1:c.1008+1323del	NP_001171562.1:n.1008+1323del
NM_001178092.1:c.936+1323del	NP_001171563.1:n.936+1323del
NM_001178093.1:c.1155+1323del	NP_001171564.1:n.1155+1323del
NM_001178094.1:c.1116+1323del	NP_001171565.1:n.1116+1323del
NM_005504.6:c.1119+1323del	NP_005495.2:n.1119+1323del
XM_011520810.1:c.1155+1323del	XP_011519112.1:n.1155+1323del
XR_931441.1:n.1532-2193del
XR_931442.1:n.1532-2193del
XR_931443.1:n.1439-2193del
XM_017019768.2:c.1221+1323del	XP_016875257.1:n.1221+1323del
XR_001748835.2:n.4171+1323del
XR_001749047.1:n.3978-2193del
XR_001749048.2:n.3978-2193del
XR_001749049.1:n.3885-2193del
NM_005504.7:c.1119+1323del MANE Select	NP_005495.2:n.1119+1323del
NM_001178091.2:c.1008+1323del	NP_001171562.1:n.1008+1323del
NM_001178092.2:c.936+1323del	NP_001171563.1:n.936+1323del
NM_001178093.2:c.1155+1323del	NP_001171564.1:n.1155+1323del
NM_001178094.2:c.1116+1323del	NP_001171565.1:n.1116+1323del