Canonical Allele Identifier: CA136618293

Gene: NRSN1

Linked Data

• dbSNP Id: rs768420183
• gnomAD v2: 6-24145596-TAGAA-T
• gnomAD v3: 6-24145368-TAGAA-T
• gnomAD v4: 6-24145368-TAGAA-T
• MyVariant Identifiers: chr6:g.24145597_24145600del (hg19) ; chr6:g.24145369_24145372del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24145372_24145375del , CM000668.2:g.24145372_24145375del	GRCh38
NC_000006.11:g.24145600_24145603del , CM000668.1:g.24145600_24145603del	GRCh37
NC_000006.10:g.24253579_24253582del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.190-176_190-173del MANE Select	ENSP00000367752.4:n.190-176_190-173del
ENST00000378477.2:c.190-176_190-173del	ENSP00000367738.2:n.190-176_190-173del
ENST00000378478.5:c.190-176_190-173del	ENSP00000367739.2:n.190-176_190-173del
ENST00000378491.8:c.190-176_190-173del	ENSP00000367752.4:n.190-176_190-173del
ENST00000468195.2:n.257-9399_257-9396del
NM_080723.4:c.190-176_190-173del	NP_542454.3:n.190-176_190-173del
NM_080723.5:c.190-176_190-173del MANE Select	NP_542454.3:n.190-176_190-173del