Canonical Allele Identifier: CA2659055748

Gene: SPTBN1

Linked Data

• gnomAD v4: 2-54457418-TGAGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54457420_54457425del , CM000664.2:g.54457420_54457425del	GRCh38
NC_000002.11:g.54684557_54684562del , CM000664.1:g.54684557_54684562del	GRCh37
NC_000002.10:g.54538061_54538066del	NCBI36
NG_029817.1:g.6104_6109del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356805.9:c.-48+902_-48+907del MANE Select	ENSP00000349259.4:n.-48+902_-48+907del
ENST00000356805.8:c.-48+902_-48+907del	ENSP00000349259.4:n.-48+902_-48+907del
ENST00000389980.7:c.-48+113_-48+118del	ENSP00000374630.3:n.-48+113_-48+118del
ENST00000615901.4:c.-48+902_-48+907del	ENSP00000479037.1:n.-48+902_-48+907del
NM_003128.2:c.-48+902_-48+907del	NP_003119.2:n.-48+902_-48+907del
XM_005264517.1:c.-48+113_-48+118del	XP_005264574.1:n.-48+113_-48+118del
XM_006712087.1:c.-48+151_-48+156del	XP_006712150.1:n.-48+151_-48+156del
XM_005264517.2:c.-48+113_-48+118del	XP_005264574.1:n.-48+113_-48+118del
XM_006712087.3:c.-48+151_-48+156del	XP_006712150.1:n.-48+151_-48+156del
XM_017004779.1:c.-48+500_-48+505del	XP_016860268.1:n.-48+500_-48+505del
XM_017004781.1:c.-48+455_-48+460del	XP_016860270.1:n.-48+455_-48+460del
NM_003128.3:c.-48+902_-48+907del MANE Select	NP_003119.2:n.-48+902_-48+907del