Canonical Allele Identifier: CA3054206750

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23348844_23348845delinsGT , CM000678.2:g.23348844_23348845delinsGT	GRCh38
NC_000016.9:g.23360165_23360166delinsGT , CM000678.1:g.23360165_23360166delinsGT	GRCh37
NC_000016.8:g.23267666_23267667delinsGT	NCBI36
NG_011908.1:g.51575_51576delinsGT

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.245_246delinsGT MANE Select	NP_000327.2:p.Ser82Cys
ENST00000343070.7:c.245_246delinsGT MANE Select	ENSP00000345751.2:p.Ser82Cys
NM_000336.2:c.245_246delinsGT	NP_000327.2:p.Ser82Cys
ENST00000307331.9:c.380_381delinsGT	ENSP00000302874.5:p.Ser127Cys
ENST00000343070.6:c.245_246delinsGT	ENSP00000345751.2:p.Ser82Cys
ENST00000564275.5:c.245_246delinsGT	ENSP00000457754.1:p.Ser82Cys
ENST00000566870.1:n.50_51delinsGT
ENST00000568085.5:c.245_246delinsGT	ENSP00000455673.1:p.Ser82Cys
ENST00000568923.5:c.245_246delinsGT	ENSP00000456309.1:p.Ser82Cys
ENST00000569789.1:n.431_432delinsGT
XM_011545913.1:c.278_279delinsGT	XP_011544215.1:p.Ser93Cys
XM_011545913.2:c.278_279delinsGT	XP_011544215.1:p.Ser93Cys
XM_011545914.1:c.263_264delinsGT	XP_011544216.1:p.Ser88Cys
XM_017023525.1:c.302_303delinsGT	XP_016879014.1:p.Ser101Cys
XM_017023526.1:c.302_303delinsGT	XP_016879015.1:p.Ser101Cys