Canonical Allele Identifier: CA2577554804

Gene: SCN11A

Linked Data

• gnomAD v4: 3-38894832-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894836del , CM000665.2:g.38894836del	GRCh38
NC_000003.11:g.38936327del , CM000665.1:g.38936327del	GRCh37
NC_000003.10:g.38911331del	NCBI36
NG_033859.1:g.60729del
NG_033859.2:g.162154del

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2535del MANE Select	ENSP00000307599.3:p.Phe845LeufsTer2
ENST00000668754.1:c.2535del	ENSP00000499569.1:p.Phe845LeufsTer2
ENST00000675223.1:c.2535del	ENSP00000502481.1:p.Phe845LeufsTer2
ENST00000675672.1:c.2535del	ENSP00000502446.1:p.Phe845LeufsTer2
ENST00000675892.1:c.2355del	ENSP00000502318.1:p.Phe785LeufsTer2
ENST00000676045.1:c.2579del	ENSP00000501685.1:n.2579del
ENST00000676176.1:c.2154del	ENSP00000501891.1:p.Phe718LeufsTer2
ENST00000302328.7:c.2535del	ENSP00000307599.3:p.Phe845LeufsTer2
ENST00000444237.2:c.2535del	ENSP00000408028.2:p.Phe845LeufsTer2
ENST00000456224.7:c.2535del	ENSP00000416757.3:p.Phe845LeufsTer2
NM_001287223.1:c.2535del	NP_001274152.1:p.Phe845LeufsTer2
NM_014139.2:c.2535del	NP_054858.2:p.Phe845LeufsTer2
XM_011533320.1:c.2535del	XP_011531622.1:p.Phe845LeufsTer2
XM_011533321.1:c.1872del	XP_011531623.1:p.Phe624LeufsTer2
XM_011533322.1:c.1083del	XP_011531624.1:p.Phe361LeufsTer2
NM_001349253.1:c.2535del	NP_001336182.1:p.Phe845LeufsTer2
XM_011533321.2:c.1872del	XP_011531623.1:p.Phe624LeufsTer2
XM_017005647.1:c.2910del	XP_016861136.1:p.Phe970LeufsTer2
XM_017005648.1:c.2337del	XP_016861137.1:p.Phe779LeufsTer2
XM_017005650.1:c.2535del	XP_016861139.1:p.Phe845LeufsTer2
XM_017005651.1:c.2262del	XP_016861140.1:p.Phe754LeufsTer2
XM_017005652.1:c.2535del	XP_016861141.1:p.Phe845LeufsTer2
XM_017005653.1:c.939del	XP_016861142.1:p.Phe313LeufsTer2
NM_001349253.2:c.2535del MANE Select	NP_001336182.1:p.Phe845LeufsTer2
NM_014139.3:c.2535del	NP_054858.2:p.Phe845LeufsTer2