Canonical Allele Identifier: CA566430495

Gene: BAK1 GGNBP1

Linked Data

• dbSNP Id: rs1249991716
• gnomAD v2: 6-33543035-AGAG-A
• gnomAD v3: 6-33575258-AGAG-A
• gnomAD v4: 6-33575258-AGAG-A
• MyVariant Identifiers: chr6:g.33543036_33543038del (hg19) ; chr6:g.33575259_33575261del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33575262_33575264del , CM000668.2:g.33575262_33575264del	GRCh38
NC_000006.11:g.33543039_33543041del , CM000668.1:g.33543039_33543041del	GRCh37
NC_000006.10:g.33651017_33651019del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374467.4:c.350+37_350+39del (BAK1) MANE Select	ENSP00000363591.3:n.350+37_350+39del
ENST00000360661.9:c.290+37_290+39del (BAK1)	ENSP00000353878.6:n.290+37_290+39del
ENST00000374467.3:c.350+37_350+39del (BAK1)	ENSP00000363591.3:n.350+37_350+39del
ENST00000442998.6:c.350+37_350+39del (BAK1)	ENSP00000391258.2:n.350+37_350+39del
ENST00000612409.1:n.249-89_249-87del (GGNBP1)
NM_001188.3:c.350+37_350+39del (BAK1)	NP_001179.1:n.350+37_350+39del
XM_011514779.1:c.350+37_350+39del (BAK1)	XP_011513081.1:n.350+37_350+39del
XM_011514780.1:c.173+37_173+39del (BAK1)	XP_011513082.1:n.173+37_173+39del
XM_011514779.3:c.350+37_350+39del (BAK1)	XP_011513081.1:n.350+37_350+39del
NM_001188.4:c.350+37_350+39del (BAK1) MANE Select	NP_001179.1:n.350+37_350+39del