Canonical Allele Identifier: CA2711296482
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs2113719189

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145611del , CM000668.2:g.24145611del GRCh38
NC_000006.11:g.24145839del , CM000668.1:g.24145839del GRCh37
NC_000006.10:g.24253818del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.253del MANE Select ENSP00000367752.4:p.Val86CysfsTer?
ENST00000378477.2:c.253del ENSP00000367738.2:p.Val86CysfsTer?
ENST00000378478.5:c.253del ENSP00000367739.2:p.Val86CysfsTer?
ENST00000378491.8:c.253del ENSP00000367752.4:p.Val86CysfsTer?
ENST00000468195.2:n.257-9160del
NM_080723.4:c.253del NP_542454.3:p.Val86CysfsTer?
NM_080723.5:c.253del MANE Select NP_542454.3:p.Val86CysfsTer?