Canonical Allele Identifier: CA2661763574
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

gnomAD v4: 2-166196020-TGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166196022_166196023del , CM000664.2:g.166196022_166196023del GRCh38
NC_000002.11:g.167052532_167052533del , CM000664.1:g.167052532_167052533del GRCh37
NC_000002.10:g.166760778_166760779del NCBI36
NG_012798.1:g.184966_184967del , LRG_369:g.184966_184967del

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.*2650_*2651del (SCN9A) ENSP00000304748.7:n.*2650_*2651del
ENST00000642356.2:c.*2650_*2651del (SCN9A) MANE Select ENSP00000495601.1:n.*2650_*2651del
ENST00000303354.10:c.*2650_*2651del (SCN9A) ENSP00000304748.7:n.*2650_*2651del
ENST00000409672.5:c.*2650_*2651del (SCN9A) ENSP00000386306.1:n.*2650_*2651del
NM_002977.3:c.*2650_*2651del , LRG_369t1:c.*2650_*2651del (SCN9A) NP_002968.1:n.*2650_*2651del
NR_110260.1:n.432-3617_432-3616del (SCN1A-AS1)
NM_001365536.1:c.*2650_*2651del (SCN9A) MANE Select NP_001352465.1:n.*2650_*2651del
Search 100 bp 5'
Search 100 bp 3'