Canonical Allele Identifier: CA2683133614

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993423-A-AAAATG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993424_66993428dup , CM000669.2:g.66993424_66993428dup	GRCh38
NC_000007.13:g.66458411_66458415dup , CM000669.1:g.66458411_66458415dup	GRCh37
NC_000007.12:g.66095846_66095850dup	NCBI36
NG_007277.1:g.7174_7178dup , LRG_104:g.7174_7178dup
NG_033069.1:g.1620_1624dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.251-11_251-7dup	ENSP00000394586.1:n.251-11_251-7dup
ENST00000697860.1:n.226-11_226-7dup
ENST00000697861.1:c.258+784_258+788dup	ENSP00000513460.1:n.258+784_258+788dup
ENST00000697862.1:c.259-11_259-7dup	ENSP00000513461.1:n.259-11_259-7dup
ENST00000697863.1:c.202-11_202-7dup	ENSP00000513462.1:n.202-11_202-7dup
ENST00000697864.1:n.1403-11_1403-7dup
ENST00000697865.1:c.202-11_202-7dup	ENSP00000513463.1:n.202-11_202-7dup
ENST00000697866.1:c.-60-11_-60-7dup	ENSP00000513464.1:n.-60-11_-60-7dup
ENST00000697867.1:c.99-11_99-7dup
ENST00000697868.1:c.*23-11_*23-7dup	ENSP00000513466.1:n.*23-11_*23-7dup
ENST00000697869.1:c.195-11_195-7dup	ENSP00000513467.1:n.195-11_195-7dup
ENST00000697897.1:c.259-11_259-7dup	ENSP00000513469.1:n.259-11_259-7dup
ENST00000246868.7:c.259-11_259-7dup MANE Select	ENSP00000246868.2:n.259-11_259-7dup
ENST00000246868.6:c.259-11_259-7dup	ENSP00000246868.2:n.259-11_259-7dup
ENST00000414306.5:c.251-11_251-7dup	ENSP00000394586.1:n.251-11_251-7dup
ENST00000463579.1:n.148-11_148-7dup
ENST00000490953.5:n.400-11_400-7dup
ENST00000617799.1:c.259-11_259-7dup	ENSP00000483040.1:n.259-11_259-7dup
NM_016038.2:c.259-11_259-7dup , LRG_104t1:c.259-11_259-7dup	NP_057122.2:n.259-11_259-7dup
NM_016038.3:c.259-11_259-7dup	NP_057122.2:n.259-11_259-7dup
NM_016038.4:c.259-11_259-7dup MANE Select	NP_057122.2:n.259-11_259-7dup