Canonical Allele Identifier: CA448950259

Gene: NRSN1

Linked Data

• dbSNP Id: rs1269812192
• gnomAD v2: 6-24145485-A-ATATATCTTTAGATATACAATATATG
• gnomAD v3: 6-24145257-A-ATATATCTTTAGATATACAATATATG
• gnomAD v4: 6-24145257-A-ATATATCTTTAGATATACAATATATG
• MyVariant Identifiers: chr6:g.24145485_24145486insTATATCTTTAGATATACAATATATG (hg19) ; chr6:g.24145257_24145258insTATATCTTTAGATATACAATATATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24145274_24145298dup , CM000668.2:g.24145274_24145298dup	GRCh38
NC_000006.11:g.24145502_24145526dup , CM000668.1:g.24145502_24145526dup	GRCh37
NC_000006.10:g.24253481_24253505dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.190-274_190-250dup MANE Select	ENSP00000367752.4:n.190-274_190-250dup
ENST00000378477.2:c.190-274_190-250dup	ENSP00000367738.2:n.190-274_190-250dup
ENST00000378478.5:c.190-274_190-250dup	ENSP00000367739.2:n.190-274_190-250dup
ENST00000378491.8:c.190-274_190-250dup	ENSP00000367752.4:n.190-274_190-250dup
ENST00000468195.2:n.257-9497_257-9473dup
NM_080723.4:c.190-274_190-250dup	NP_542454.3:n.190-274_190-250dup
NM_080723.5:c.190-274_190-250dup MANE Select	NP_542454.3:n.190-274_190-250dup