Canonical Allele Identifier: CA1358778035

Gene: SCN11A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39032591_39032605delinsAAAACAGAAAATTTC , CM000665.2:g.39032591_39032605delinsAAAACAGAAAATTTC	GRCh38
NC_000003.11:g.39074082_39074096delinsAAAACAGAAAATTTC , CM000665.1:g.39074082_39074096delinsAAAACAGAAAATTTC	GRCh37
NC_000003.10:g.39049086_39049100delinsAAAACAGAAAATTTC	NCBI36
NG_033859.2:g.24382_24396delinsGAAATTTTCTGTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.-403-102_-403-88delinsGAAATTTTCTGTTTT MANE Select	ENSP00000307599.3:n.-403-102_-403-88delinsGAAATTTTCTGTTTT
ENST00000665106.1:n.82-102_82-88delinsGAAATTTTCTGTTTT
ENST00000668754.1:c.-903-102_-903-88delinsGAAATTTTCTGTTTT	ENSP00000499569.1:n.-903-102_-903-88delinsGAAATTTTCTGTTTT
ENST00000674755.1:n.233-102_233-88delinsGAAATTTTCTGTTTT
ENST00000675269.1:n.125-102_125-88delinsGAAATTTTCTGTTTT
ENST00000676333.1:n.39-102_39-88delinsGAAATTTTCTGTTTT
XM_011534335.1:c.49-102_49-88delinsGAAATTTTCTGTTTT	XP_011532637.1:n.49-102_49-88delinsGAAATTTTCTGTTTT
XM_011534336.1:c.49-102_49-88delinsGAAATTTTCTGTTTT	XP_011532638.1:n.49-102_49-88delinsGAAATTTTCTGTTTT
XR_940736.1:n.79-102_79-88delinsGAAATTTTCTGTTTT
XR_940737.1:n.79-102_79-88delinsGAAATTTTCTGTTTT
XR_940738.1:n.79-102_79-88delinsGAAATTTTCTGTTTT
XR_940739.1:n.79-102_79-88delinsGAAATTTTCTGTTTT
NM_001349253.1:c.-403-102_-403-88delinsGAAATTTTCTGTTTT	NP_001336182.1:n.-403-102_-403-88delinsGAAATTTTCTGTTTT
NM_001349253.2:c.-403-102_-403-88delinsGAAATTTTCTGTTTT MANE Select	NP_001336182.1:n.-403-102_-403-88delinsGAAATTTTCTGTTTT
NR_164473.1:n.85-102_85-88delinsGAAATTTTCTGTTTT