Canonical Allele Identifier: CA136618285

Gene: NRSN1

Linked Data

• dbSNP Id: rs201221669
• gnomAD v2: 6-24145479-TTA-T
• gnomAD v3: 6-24145251-TTA-T
• gnomAD v4: 6-24145251-TTA-T
• MyVariant Identifiers: chr6:g.24145480_24145481del (hg19) ; chr6:g.24145252_24145253del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24145261_24145262del , CM000668.2:g.24145261_24145262del	GRCh38
NC_000006.11:g.24145489_24145490del , CM000668.1:g.24145489_24145490del	GRCh37
NC_000006.10:g.24253468_24253469del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.190-287_190-286del MANE Select	ENSP00000367752.4:n.190-287_190-286del
ENST00000378477.2:c.190-287_190-286del	ENSP00000367738.2:n.190-287_190-286del
ENST00000378478.5:c.190-287_190-286del	ENSP00000367739.2:n.190-287_190-286del
ENST00000378491.8:c.190-287_190-286del	ENSP00000367752.4:n.190-287_190-286del
ENST00000468195.2:n.257-9510_257-9509del
NM_080723.4:c.190-287_190-286del	NP_542454.3:n.190-287_190-286del
NM_080723.5:c.190-287_190-286del MANE Select	NP_542454.3:n.190-287_190-286del