Canonical Allele Identifier: CA2753031360
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166195942_166195943del , CM000664.2:g.166195942_166195943del GRCh38
NC_000002.11:g.167052452_167052453del , CM000664.1:g.167052452_167052453del GRCh37
NC_000002.10:g.166760698_166760699del NCBI36
NG_012798.1:g.185046_185047del , LRG_369:g.185046_185047del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303354.11:c.*2730_*2731del (SCN9A) ENSP00000304748.7:n.*2730_*2731del
ENST00000642356.2:c.*2730_*2731del (SCN9A) MANE Select ENSP00000495601.1:n.*2730_*2731del
ENST00000303354.10:c.*2730_*2731del (SCN9A) ENSP00000304748.7:n.*2730_*2731del
ENST00000409672.5:c.*2730_*2731del (SCN9A) ENSP00000386306.1:n.*2730_*2731del
NM_002977.3:c.*2730_*2731del , LRG_369t1:c.*2730_*2731del (SCN9A) NP_002968.1:n.*2730_*2731del
NR_110260.1:n.432-3697_432-3696del (SCN1A-AS1)
NM_001365536.1:c.*2730_*2731del (SCN9A) MANE Select NP_001352465.1:n.*2730_*2731del
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