Canonical Allele Identifier: CA6405846

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6349212del , CM000674.2:g.6349212del	GRCh38
NC_000012.11:g.6458378del , CM000674.1:g.6458378del	GRCh37
NC_000012.10:g.6328639del	NCBI36
NG_011945.1:g.33146del
NG_011945.2:g.33146del

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.1449del MANE Select	NP_001029.1:p.Tyr484ThrfsTer13
ENST00000228916.7:c.1449del MANE Select	ENSP00000228916.2:p.Tyr484ThrfsTer13
NM_001038.5:c.1449del	NP_001029.1:p.Tyr484ThrfsTer13
NM_001159575.1:c.1518del	NP_001153047.1:p.Tyr507ThrfsTer13
NM_001159575.2:c.1518del	NP_001153047.1:p.Tyr507ThrfsTer13
NM_001159576.1:c.1626del	NP_001153048.1:p.Tyr543ThrfsTer13
NM_001159576.2:c.1626del	NP_001153048.1:p.Tyr543ThrfsTer13
ENST00000228916.6:c.1449del	ENSP00000228916.2:p.Tyr484ThrfsTer13
ENST00000338748.9:c.*520del	ENSP00000345028.5:n.*520del
ENST00000360168.7:c.1626del	ENSP00000353292.3:p.Tyr543ThrfsTer13
ENST00000396966.6:c.1439+115del	ENSP00000380166.2:n.1439+115del
ENST00000457871.2:n.396del
ENST00000540037.5:c.549del	ENSP00000440876.1:p.Tyr184ThrfsTer13
ENST00000543768.1:c.1518del	ENSP00000438739.1:p.Tyr507ThrfsTer13
XR_001748982.1:n.87+945del
XR_001748983.1:n.87+945del
XR_001748984.1:n.87+945del