Canonical Allele Identifier: CA2677512523
Gene: NRSN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145921del , CM000668.2:g.24145921del GRCh38
NC_000006.11:g.24146149del , CM000668.1:g.24146149del GRCh37
NC_000006.10:g.24254128del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.563del MANE Select ENSP00000367752.4:p.Asn188MetfsTer19
ENST00000378478.5:c.563del ENSP00000367739.2:p.Asn188MetfsTer19
ENST00000378491.8:c.563del ENSP00000367752.4:p.Asn188MetfsTer19
ENST00000468195.2:n.257-8850del
NM_080723.4:c.563del NP_542454.3:p.Asn188MetfsTer19
NM_080723.5:c.563del MANE Select NP_542454.3:p.Asn188MetfsTer19