Canonical Allele Identifier: CA627146400

Gene: TBX4

Linked Data

• dbSNP Id: rs1482774919
• gnomAD v2: 17-59534009-ACGT-A
• gnomAD v4: 17-61456648-ACGT-A
• MyVariant Identifiers: chr17:g.59534010_59534012del (hg19) ; chr17:g.61456649_61456651del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456654_61456656del , CM000679.2:g.61456654_61456656del	GRCh38
NC_000017.10:g.59534015_59534017del , CM000679.1:g.59534015_59534017del	GRCh37
NC_000017.9:g.56888797_56888799del	NCBI36
NG_008080.1:g.5209_5211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.164_166del	ENSP00000495714.1:p.Val55del
ENST00000644296.1:c.164_166del MANE Select	ENSP00000495986.1:p.Val55del
ENST00000240335.1:c.164_166del	ENSP00000240335.1:p.Val55del
ENST00000393853.8:c.164_166del	ENSP00000377435.3:p.Val55del
ENST00000589003.5:c.-95_-93del	ENSP00000467588.1:n.-95_-93del
NM_018488.2:c.164_166del	NP_060958.2:p.Val55del
XM_005257835.3:c.164_166del	XP_005257892.2:p.Val55del
XM_005257837.2:c.164_166del	XP_005257894.1:p.Val55del
XM_011525490.1:c.353_355del	XP_011523792.1:p.Val118del
XM_011525491.1:c.353_355del	XP_011523793.1:p.Val118del
XM_011525492.1:c.164_166del	XP_011523794.1:p.Val55del
XM_011525493.1:c.164_166del	XP_011523795.1:p.Val55del
XM_011525494.1:c.164_166del	XP_011523796.1:p.Val55del
XM_011525495.1:c.353_355del	XP_011523797.1:p.Val118del
NM_001321120.2:c.164_166del MANE Select	NP_001308049.1:p.Val55del
NM_018488.3:c.164_166del	NP_060958.2:p.Val55del
XM_011525490.2:c.353_355del	XP_011523792.1:p.Val118del
XM_011525491.2:c.353_355del	XP_011523793.1:p.Val118del
XM_011525495.2:c.353_355del	XP_011523797.1:p.Val118del