Canonical Allele Identifier: CA1038852233
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1693241201
gnomAD v3: 2-166196087-CTAAGT-C
gnomAD v4: 2-166196087-CTAAGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166196094_166196098del , CM000664.2:g.166196094_166196098del GRCh38
NC_000002.11:g.167052604_167052608del , CM000664.1:g.167052604_167052608del GRCh37
NC_000002.10:g.166760850_166760854del NCBI36
NG_012798.1:g.184896_184900del , LRG_369:g.184896_184900del

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.*2580_*2584del (SCN9A) ENSP00000304748.7:n.*2580_*2584del
ENST00000642356.2:c.*2580_*2584del (SCN9A) MANE Select ENSP00000495601.1:n.*2580_*2584del
ENST00000303354.10:c.*2580_*2584del (SCN9A) ENSP00000304748.7:n.*2580_*2584del
ENST00000409672.5:c.*2580_*2584del (SCN9A) ENSP00000386306.1:n.*2580_*2584del
NM_002977.3:c.*2580_*2584del , LRG_369t1:c.*2580_*2584del (SCN9A) NP_002968.1:n.*2580_*2584del
NR_110260.1:n.432-3545_432-3541del (SCN1A-AS1)
NM_001365536.1:c.*2580_*2584del (SCN9A) MANE Select NP_001352465.1:n.*2580_*2584del
Search 100 bp 5'
Search 100 bp 3'