Canonical Allele Identifier: CA2695207758

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993396_66993401del , CM000669.2:g.66993396_66993401del	GRCh38
NC_000007.13:g.66458383_66458388del , CM000669.1:g.66458383_66458388del	GRCh37
NC_000007.12:g.66095818_66095823del	NCBI36
NG_007277.1:g.7205_7210del , LRG_104:g.7205_7210del
NG_033069.1:g.1592_1597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*10_*15del	ENSP00000394586.1:n.*10_*15del
ENST00000697860.1:n.246_251del
ENST00000697861.1:c.258+815_258+820del	ENSP00000513460.1:n.258+815_258+820del
ENST00000697862.1:c.279_284del	ENSP00000513461.1:p.Gln94_Val95del
ENST00000697863.1:c.222_227del	ENSP00000513462.1:p.Gln75_Val76del
ENST00000697864.1:n.1423_1428del
ENST00000697865.1:c.222_227del	ENSP00000513463.1:p.Gln75_Val76del
ENST00000697866.1:c.-40_-35del	ENSP00000513464.1:n.-40_-35del
ENST00000697867.1:c.119_124del
ENST00000697868.1:c.*43_*48del	ENSP00000513466.1:n.*43_*48del
ENST00000697869.1:c.*14_*19del	ENSP00000513467.1:n.*14_*19del
ENST00000697897.1:c.279_284del	ENSP00000513469.1:p.Gln94_Val95del
ENST00000246868.7:c.279_284del MANE Select	ENSP00000246868.2:p.Gln94_Val95del
ENST00000246868.6:c.279_284del	ENSP00000246868.2:p.Gln94_Val95del
ENST00000414306.5:c.*10_*15del	ENSP00000394586.1:n.*10_*15del
ENST00000463579.1:n.168_173del
ENST00000490953.5:n.420_425del
ENST00000617799.1:c.279_284del	ENSP00000483040.1:p.Gln94_Val95del
NM_016038.2:c.279_284del , LRG_104t1:c.279_284del	NP_057122.2:p.Gln94_Val95del
NM_016038.3:c.279_284del	NP_057122.2:p.Gln94_Val95del
NM_016038.4:c.279_284del MANE Select	NP_057122.2:p.Gln94_Val95del