Canonical Allele Identifier: CA2678285573

Gene: BAK1 GGNBP1

Linked Data

• gnomAD v4: 6-33575346-T-TGC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33575347_33575348dup , CM000668.2:g.33575347_33575348dup	GRCh38
NC_000006.11:g.33543124_33543125dup , CM000668.1:g.33543124_33543125dup	GRCh37
NC_000006.10:g.33651102_33651103dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374467.4:c.300_301dup (BAK1) MANE Select	ENSP00000363591.3:p.Gln101ArgfsTer?
ENST00000360661.9:c.240_241dup (BAK1)	ENSP00000353878.6:p.Gln81ArgfsTer?
ENST00000374467.3:c.300_301dup (BAK1)	ENSP00000363591.3:p.Gln101ArgfsTer?
ENST00000442998.6:c.300_301dup (BAK1)	ENSP00000391258.2:p.Gln101ArgfsTer27
ENST00000612409.1:n.249-4_249-3dup (GGNBP1)
NM_001188.3:c.300_301dup (BAK1)	NP_001179.1:p.Gln101ArgfsTer?
XM_011514779.1:c.300_301dup (BAK1)	XP_011513081.1:p.Gln101ArgfsTer?
XM_011514780.1:c.123_124dup (BAK1)	XP_011513082.1:p.Gln42ArgfsTer?
XM_011514779.3:c.300_301dup (BAK1)	XP_011513081.1:p.Gln101ArgfsTer?
NM_001188.4:c.300_301dup (BAK1) MANE Select	NP_001179.1:p.Gln101ArgfsTer?