Canonical Allele Identifier: CA566430500

Gene: BAK1 GGNBP1

Linked Data

• dbSNP Id: rs1162045089
• gnomAD v2: 6-33543060-A-AG
• gnomAD v4: 6-33575283-A-AG
• MyVariant Identifiers: chr6:g.33543060_33543061insG (hg19) ; chr6:g.33575283_33575284insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33575285dup , CM000668.2:g.33575285dup	GRCh38
NC_000006.11:g.33543062dup , CM000668.1:g.33543062dup	GRCh37
NC_000006.10:g.33651040dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374467.4:c.350+14dup (BAK1) MANE Select	ENSP00000363591.3:n.350+14dup
ENST00000360661.9:c.290+14dup (BAK1)	ENSP00000353878.6:n.290+14dup
ENST00000374467.3:c.350+14dup (BAK1)	ENSP00000363591.3:n.350+14dup
ENST00000442998.6:c.350+14dup (BAK1)	ENSP00000391258.2:n.350+14dup
ENST00000612409.1:n.249-66dup (GGNBP1)
NM_001188.3:c.350+14dup (BAK1)	NP_001179.1:n.350+14dup
XM_011514779.1:c.350+14dup (BAK1)	XP_011513081.1:n.350+14dup
XM_011514780.1:c.173+14dup (BAK1)	XP_011513082.1:n.173+14dup
XM_011514779.3:c.350+14dup (BAK1)	XP_011513081.1:n.350+14dup
NM_001188.4:c.350+14dup (BAK1) MANE Select	NP_001179.1:n.350+14dup