Canonical Allele Identifier: CA250581

Gene: BAX

Linked Data

• ClinVar Variation Id: 9511
• ClinVar RCV Id: RCV000010119 ; RCV001267419
• dbSNP Id: rs398122840
• ExAC: 19:49458970 T / TG
• gnomAD v2: 19-49458970-T-TG
• gnomAD v3: 19-48955713-T-TG
• gnomAD v4: 19-48955713-T-TG
• COSMIC: COSM1481303 ; COSM1481304 ; COSM4765217 ; COSM4765218
• MyVariant Identifiers: chr19:g.49458978dupG (hg19) ; chr19:g.49458971_49458972insG (hg19) ; chr19:g.49458970_49458971insG (hg19) ; chr19:g.48955721dupG (hg38) ; chr19:g.48955713_48955714insG (hg38)
• PubMed: PMID:9020077

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48955721dup , CM000681.2:g.48955721dup	GRCh38
NC_000019.9:g.49458978dup , CM000681.1:g.49458978dup	GRCh37
NC_000019.8:g.54150790dup	NCBI36
NG_012191.1:g.5862dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345358.12:c.121dup MANE Select	ENSP00000263262.9:p.Glu41GlyfsTer?
ENST00000293288.12:c.121dup	ENSP00000293288.8:p.Glu41GlyfsTer?
ENST00000345358.11:c.121dup	ENSP00000263262.9:p.Glu41GlyfsTer?
ENST00000354470.7:c.86+122dup	ENSP00000346461.3:n.86+122dup
ENST00000356483.8:c.121dup	ENSP00000348871.4:p.Glu41GlyfsTer?
ENST00000391871.4:c.70dup
ENST00000415969.6:c.121dup	ENSP00000389971.2:p.Glu41GlyfsTer?
ENST00000502487.5:n.820dup
ENST00000503726.2:n.214dup
ENST00000506183.5:c.35-477dup
ENST00000513545.5:n.240dup
ENST00000515540.5:c.69dup	ENSP00000426328.1:p.Arg24GlufsTer?
ENST00000539787.2:c.-1-477dup	ENSP00000441413.2:n.-1-477dup
NM_001291428.1:c.121dup	NP_001278357.1:p.Glu41GlyfsTer?
NM_001291429.1:c.10dup	NP_001278358.1:p.Glu4GlyfsTer?
NM_001291430.1:c.-1-477dup	NP_001278359.1:n.-1-477dup
NM_001291431.1:c.-1-477dup	NP_001278360.1:n.-1-477dup
NM_004324.3:c.121dup	NP_004315.1:p.Glu41GlyfsTer?
NM_138761.3:c.121dup	NP_620116.1:p.Glu41GlyfsTer?
NM_138763.3:c.86+122dup	NP_620118.1:n.86+122dup
NM_138764.4:c.121dup	NP_620119.2:p.Glu41GlyfsTer?
NR_027882.1:n.190dup
XM_006723314.2:c.10dup	XP_006723377.1:p.Glu4GlyfsTer?
XM_011527191.1:c.10dup	XP_011525493.1:p.Glu4GlyfsTer?
XM_017027077.1:c.64dup	XP_016882566.1:p.Glu22GlyfsTer?
NM_138761.4:c.121dup MANE Select	NP_620116.1:p.Glu41GlyfsTer?
NM_001291428.2:c.121dup	NP_001278357.1:p.Glu41GlyfsTer?
NM_001291429.2:c.10dup	NP_001278358.1:p.Glu4GlyfsTer?
NM_001291431.2:c.-1-477dup	NP_001278360.1:n.-1-477dup
NM_004324.4:c.121dup	NP_004315.1:p.Glu41GlyfsTer?
NM_138763.4:c.86+122dup	NP_620118.1:n.86+122dup
NM_138764.5:c.121dup	NP_620119.2:p.Glu41GlyfsTer?
NR_027882.2:n.175dup
NM_001291430.2:c.-1-477dup	NP_001278359.1:n.-1-477dup