Canonical Allele Identifier: CA2677512524
Gene: NRSN1 HGNC NCBI

Linked Data

gnomAD v4: 6-24145927-AGCCTCTACTGGCAACCTGAAACCTTTCCCACCCCAGTTCTTCTTGTCTGATTTATGCCCGTGGTTAAAAAGAGCAGGCCAGTTTTCGAGATAAAGAAGATTTGGCGTTGACT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145931_24146042del , CM000668.2:g.24145931_24146042del GRCh38
NC_000006.11:g.24146159_24146270del , CM000668.1:g.24146159_24146270del GRCh37
NC_000006.10:g.24254138_24254249del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.573_*96del MANE Select ENSP00000367752.4:n.[c.573_*96del;Leu192Ter]
ENST00000378478.5:c.573_*96del ENSP00000367739.2:n.[c.573_*96del;Leu192Ter]
ENST00000378491.8:c.573_*96del ENSP00000367752.4:n.[c.573_*96del;Leu192Ter]
ENST00000468195.2:n.257-8840_257-8729del
NM_080723.4:c.573_*96del NP_542454.3:n.[c.573_*96del;Leu192Ter]
NM_080723.5:c.573_*96del MANE Select NP_542454.3:n.[c.573_*96del;Leu192Ter]
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