Canonical Allele Identifier: CA823265032

Gene: NRSN1

Linked Data

• dbSNP Id: rs1279166256
• gnomAD v3: 6-24145300-AAT-A
• gnomAD v4: 6-24145300-AAT-A
• MyVariant Identifiers: chr6:g.24145529_24145530del (hg19) ; chr6:g.24145301_24145302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24145311_24145312del , CM000668.2:g.24145311_24145312del	GRCh38
NC_000006.11:g.24145539_24145540del , CM000668.1:g.24145539_24145540del	GRCh37
NC_000006.10:g.24253518_24253519del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.190-237_190-236del MANE Select	ENSP00000367752.4:n.190-237_190-236del
ENST00000378477.2:c.190-237_190-236del	ENSP00000367738.2:n.190-237_190-236del
ENST00000378478.5:c.190-237_190-236del	ENSP00000367739.2:n.190-237_190-236del
ENST00000378491.8:c.190-237_190-236del	ENSP00000367752.4:n.190-237_190-236del
ENST00000468195.2:n.257-9460_257-9459del
NM_080723.4:c.190-237_190-236del	NP_542454.3:n.190-237_190-236del
NM_080723.5:c.190-237_190-236del MANE Select	NP_542454.3:n.190-237_190-236del