Canonical Allele Identifier: CA2695203647

Gene: SFTPC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22163988del , CM000670.2:g.22163988del	GRCh38
NC_000008.10:g.22021501del , CM000670.1:g.22021501del	GRCh37
NC_000008.9:g.22077446del	NCBI36
NG_016968.1:g.7318del
NG_029659.1:g.3849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679463.1:c.523del MANE Select	ENSP00000505152.1:p.Leu175TrpfsTer5
ENST00000318561.7:c.541del	ENSP00000316152.3:p.Leu181TrpfsTer5
ENST00000437090.6:c.*168del	ENSP00000407931.2:n.*168del
ENST00000520605.5:c.277-278del	ENSP00000430266.1:n.277-278del
ENST00000521315.5:c.523del	ENSP00000430410.1:p.Leu175TrpfsTer5
ENST00000522109.5:c.*424del	ENSP00000429496.1:n.*424del
ENST00000523296.1:c.364del	ENSP00000429619.1:p.Leu122TrpfsTer?
ENST00000524255.5:c.382del	ENSP00000429552.1:p.Leu128TrpfsTer5
NM_001172357.1:c.523del	NP_001165828.1:p.Leu175TrpfsTer5
NM_001172410.1:c.541del	NP_001165881.1:p.Leu181TrpfsTer5
NM_003018.3:c.541del	NP_003009.2:p.Leu181TrpfsTer5
XM_006716379.2:c.523del	XP_006716442.1:p.Leu175TrpfsTer5
XM_006716380.2:c.523del	XP_006716443.1:p.Leu175TrpfsTer5
XM_011544612.1:c.382del	XP_011542914.1:p.Leu128TrpfsTer5
XM_011544613.1:c.382del	XP_011542915.1:p.Leu128TrpfsTer5
NM_001317778.1:c.523del	NP_001304707.1:p.Leu175TrpfsTer5
NM_001317779.1:c.382del	NP_001304708.1:p.Leu128TrpfsTer5
NM_001317780.1:c.523del	NP_001304709.1:p.Leu175TrpfsTer5
XM_011544613.3:c.382del	XP_011542915.1:p.Leu128TrpfsTer5
NM_001172357.2:c.523del	NP_001165828.1:p.Leu175TrpfsTer5
NM_001172410.2:c.541del	NP_001165881.1:p.Leu181TrpfsTer5
NM_001317778.2:c.523del MANE Select	NP_001304707.1:p.Leu175TrpfsTer5
NM_001317779.2:c.382del	NP_001304708.1:p.Leu128TrpfsTer5
NM_001317780.2:c.523del	NP_001304709.1:p.Leu175TrpfsTer5
NM_003018.4:c.541del	NP_003009.2:p.Leu181TrpfsTer5
NM_001385653.1:c.541del	NP_001372582.1:p.Leu181TrpfsTer5
NM_001385654.1:c.541del	NP_001372583.1:p.Leu181TrpfsTer5
NM_001385655.1:c.541del	NP_001372584.1:p.Leu181TrpfsTer5
NM_001385656.1:c.523del	NP_001372585.1:p.Leu175TrpfsTer5
NM_001385657.1:c.523del	NP_001372586.1:p.Leu175TrpfsTer5
NM_001385658.1:c.523del	NP_001372587.1:p.Leu175TrpfsTer5
NM_001385659.1:c.523del	NP_001372588.1:p.Leu175TrpfsTer5
NM_001385660.1:c.382del	NP_001372589.1:p.Leu128TrpfsTer5