Canonical Allele Identifier: CA2695207774

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988473_66988474delinsAG , CM000669.2:g.66988473_66988474delinsAG	GRCh38
NC_000007.13:g.66453460_66453461delinsAG , CM000669.1:g.66453460_66453461delinsAG	GRCh37
NC_000007.12:g.66090895_66090896delinsAG	NCBI36
NG_007277.1:g.12128_12129delinsCT , LRG_104:g.12128_12129delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*381_*382delinsCT	ENSP00000394586.1:n.*381_*382delinsCT
ENST00000697860.1:n.617_618delinsCT
ENST00000697861.1:c.449_450delinsCT	ENSP00000513460.1:p.Phe150Ser
ENST00000697862.1:c.*91_*92delinsCT	ENSP00000513461.1:n.*91_*92delinsCT
ENST00000697863.1:c.593_594delinsCT	ENSP00000513462.1:p.Phe198Ser
ENST00000697864.1:n.1794_1795delinsCT
ENST00000697865.1:c.593_594delinsCT	ENSP00000513463.1:p.Phe198Ser
ENST00000697866.1:c.332_333delinsCT	ENSP00000513464.1:p.Phe111Ser
ENST00000697867.1:c.628_629delinsCT
ENST00000697868.1:c.*414_*415delinsCT	ENSP00000513466.1:n.*414_*415delinsCT
ENST00000697897.1:c.650_651delinsCT	ENSP00000513469.1:p.Phe217Ser
ENST00000246868.7:c.650_651delinsCT MANE Select	ENSP00000246868.2:p.Phe217Ser
ENST00000246868.6:c.650_651delinsCT	ENSP00000246868.2:p.Phe217Ser
ENST00000414306.5:c.*381_*382delinsCT	ENSP00000394586.1:n.*381_*382delinsCT
ENST00000617799.1:c.650_651delinsCT	ENSP00000483040.1:p.Phe217Ser
NM_016038.2:c.650_651delinsCT , LRG_104t1:c.650_651delinsCT	NP_057122.2:p.Phe217Ser
NM_016038.3:c.650_651delinsCT	NP_057122.2:p.Phe217Ser
NM_016038.4:c.650_651delinsCT MANE Select	NP_057122.2:p.Phe217Ser