Canonical Allele Identifier: CA917697120

Gene: NRSN1

Linked Data

• dbSNP Id: rs1561868597
• gnomAD v3: 6-24145251-TTATATATATATCTTTAGATATACAA-T
• gnomAD v4: 6-24145251-TTATATATATATCTTTAGATATACAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24145257_24145281del , CM000668.2:g.24145257_24145281del	GRCh38
NC_000006.11:g.24145485_24145509del , CM000668.1:g.24145485_24145509del	GRCh37
NC_000006.10:g.24253464_24253488del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378491.9:c.190-291_190-267del MANE Select	ENSP00000367752.4:n.190-291_190-267del
ENST00000378477.2:c.190-291_190-267del	ENSP00000367738.2:n.190-291_190-267del
ENST00000378478.5:c.190-291_190-267del	ENSP00000367739.2:n.190-291_190-267del
ENST00000378491.8:c.190-291_190-267del	ENSP00000367752.4:n.190-291_190-267del
ENST00000468195.2:n.257-9514_257-9490del
NM_080723.4:c.190-291_190-267del	NP_542454.3:n.190-291_190-267del
NM_080723.5:c.190-291_190-267del MANE Select	NP_542454.3:n.190-291_190-267del