Canonical Allele Identifier: CA575259468

Gene: SBDS

Linked Data

• dbSNP Id: rs1335647098
• gnomAD v2: 7-66458192-GA-G
• gnomAD v3: 7-66993205-GA-G
• gnomAD v4: 7-66993205-GA-G
• MyVariant Identifiers: chr7:g.66458193del (hg19) ; chr7:g.66993206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993208del , CM000669.2:g.66993208del	GRCh38
NC_000007.13:g.66458195del , CM000669.1:g.66458195del	GRCh37
NC_000007.12:g.66095630del	NCBI36
NG_007277.1:g.7396del , LRG_104:g.7396del
NG_033069.1:g.1404del

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*190+11del	ENSP00000394586.1:n.*190+11del
ENST00000697860.1:n.426+11del
ENST00000697861.1:c.258+1006del	ENSP00000513460.1:n.258+1006del
ENST00000697862.1:c.459+11del	ENSP00000513461.1:n.459+11del
ENST00000697863.1:c.402+11del	ENSP00000513462.1:n.402+11del
ENST00000697864.1:n.1603+11del
ENST00000697865.1:c.402+11del	ENSP00000513463.1:n.402+11del
ENST00000697866.1:c.141+11del	ENSP00000513464.1:n.141+11del
ENST00000697867.1:c.299+11del
ENST00000697868.1:c.*223+11del	ENSP00000513466.1:n.*223+11del
ENST00000697869.1:c.*194+11del	ENSP00000513467.1:n.*194+11del
ENST00000697897.1:c.459+11del	ENSP00000513469.1:n.459+11del
ENST00000246868.7:c.459+11del MANE Select	ENSP00000246868.2:n.459+11del
ENST00000246868.6:c.459+11del	ENSP00000246868.2:n.459+11del
ENST00000414306.5:c.*190+11del	ENSP00000394586.1:n.*190+11del
ENST00000463579.1:n.348+11del
ENST00000490953.5:n.600+11del
ENST00000617799.1:c.459+11del	ENSP00000483040.1:n.459+11del
NM_016038.2:c.459+11del , LRG_104t1:c.459+11del	NP_057122.2:n.459+11del
NM_016038.3:c.459+11del	NP_057122.2:n.459+11del
NM_016038.4:c.459+11del MANE Select	NP_057122.2:n.459+11del