Canonical Allele Identifier: CA906895452

Gene: SCN11A

Linked Data

• dbSNP Id: rs1248411540
• MyVariant Identifiers: chr3:g.39074083_39074096del (hg19) ; chr3:g.39032592_39032605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39032596_39032609del , CM000665.2:g.39032596_39032609del	GRCh38
NC_000003.11:g.39074087_39074100del , CM000665.1:g.39074087_39074100del	GRCh37
NC_000003.10:g.39049091_39049104del	NCBI36
NG_033859.2:g.24382_24395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.-403-102_-403-89del MANE Select	ENSP00000307599.3:n.-403-102_-403-89del
ENST00000665106.1:n.82-102_82-89del
ENST00000668754.1:c.-903-102_-903-89del	ENSP00000499569.1:n.-903-102_-903-89del
ENST00000674755.1:n.233-102_233-89del
ENST00000675269.1:n.125-102_125-89del
ENST00000676333.1:n.39-102_39-89del
XM_011534335.1:c.49-102_49-89del	XP_011532637.1:n.49-102_49-89del
XM_011534336.1:c.49-102_49-89del	XP_011532638.1:n.49-102_49-89del
XR_940736.1:n.79-102_79-89del
XR_940737.1:n.79-102_79-89del
XR_940738.1:n.79-102_79-89del
XR_940739.1:n.79-102_79-89del
NM_001349253.1:c.-403-102_-403-89del	NP_001336182.1:n.-403-102_-403-89del
NM_001349253.2:c.-403-102_-403-89del MANE Select	NP_001336182.1:n.-403-102_-403-89del
NR_164473.1:n.85-102_85-89del