Canonical Allele Identifier: CA2580615123

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6355818_6355819delinsGA , CM000674.2:g.6355818_6355819delinsGA	GRCh38
NC_000012.11:g.6464984_6464985delinsGA , CM000674.1:g.6464984_6464985delinsGA	GRCh37
NC_000012.10:g.6335245_6335246delinsGA	NCBI36
NG_011945.1:g.26539_26540delinsTC
NG_011945.2:g.26539_26540delinsTC

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.937_938delinsTC MANE Select	NP_001029.1:p.Asn313Ser
ENST00000228916.7:c.937_938delinsTC MANE Select	ENSP00000228916.2:p.Asn313Ser
NM_001038.5:c.937_938delinsTC	NP_001029.1:p.Asn313Ser
NM_001159575.1:c.1006_1007delinsTC	NP_001153047.1:p.Asn336Ser
NM_001159575.2:c.1006_1007delinsTC	NP_001153047.1:p.Asn336Ser
NM_001159576.1:c.1114_1115delinsTC	NP_001153048.1:p.Asn372Ser
NM_001159576.2:c.1114_1115delinsTC	NP_001153048.1:p.Asn372Ser
ENST00000228916.6:c.937_938delinsTC	ENSP00000228916.2:p.Asn313Ser
ENST00000338748.9:c.*8_*9delinsTC	ENSP00000345028.5:n.*8_*9delinsTC
ENST00000360168.7:c.1114_1115delinsTC	ENSP00000353292.3:p.Asn372Ser
ENST00000396966.6:c.937_938delinsTC	ENSP00000380166.2:p.Asn313Ser
ENST00000536087.1:n.475_476delinsTC
ENST00000538979.5:n.346_347delinsTC
ENST00000540037.5:c.37_38delinsTC	ENSP00000440876.1:p.Asn13Ser
ENST00000541249.5:n.184_185delinsTC
ENST00000542966.1:n.419_420delinsTC
ENST00000543768.1:c.1006_1007delinsTC	ENSP00000438739.1:p.Asn336Ser