Canonical Allele Identifier: CA1008886766

Gene: TBX19

Linked Data

• dbSNP Id: rs1649000744
• gnomAD v3: 1-168293328-ACTGT-A
• gnomAD v4: 1-168293328-ACTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168293330_168293333del , CM000663.2:g.168293330_168293333del	GRCh38
NC_000001.10:g.168262568_168262571del , CM000663.1:g.168262568_168262571del	GRCh37
NC_000001.9:g.166529192_166529195del	NCBI36
NG_008244.1:g.17291_17294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367821.8:c.603+52_603+55del MANE Select	ENSP00000356795.3:n.603+52_603+55del
ENST00000367821.7:c.603+52_603+55del	ENSP00000356795.3:n.603+52_603+55del
ENST00000431969.5:c.400+52_400+55del
NM_005149.2:c.603+52_603+55del	NP_005140.1:n.603+52_603+55del
NM_005149.3:c.603+52_603+55del MANE Select	NP_005140.1:n.603+52_603+55del