Canonical Allele Identifier: CA2695203649

Gene: SFTPC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22163992_22164009dup , CM000670.2:g.22163992_22164009dup	GRCh38
NC_000008.10:g.22021505_22021522dup , CM000670.1:g.22021505_22021522dup	GRCh37
NC_000008.9:g.22077450_22077467dup	NCBI36
NG_016968.1:g.7322_7339dup
NG_029659.1:g.3853_3870dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679463.1:c.527_544dup MANE Select	ENSP00000505152.1:p.Thr181_Leu182insArgMetAlaValSerThr
ENST00000318561.7:c.545_562dup	ENSP00000316152.3:p.Thr187_Leu188insArgMetAlaValSerThr
ENST00000437090.6:c.*172_*189dup	ENSP00000407931.2:n.*172_*189dup
ENST00000520605.5:c.277-274_277-257dup	ENSP00000430266.1:n.277-274_277-257dup
ENST00000521315.5:c.527_544dup	ENSP00000430410.1:p.Thr181_Leu182insArgMetAlaValSerThr
ENST00000524255.5:c.386_403dup	ENSP00000429552.1:p.Thr134_Leu135insArgMetAlaValSerThr
NM_001172357.1:c.527_544dup	NP_001165828.1:p.Thr181_Leu182insArgMetAlaValSerThr
NM_001172410.1:c.545_562dup	NP_001165881.1:p.Thr187_Leu188insArgMetAlaValSerThr
NM_003018.3:c.545_562dup	NP_003009.2:p.Thr187_Leu188insArgMetAlaValSerThr
XM_006716379.2:c.527_544dup	XP_006716442.1:p.Thr181_Leu182insArgMetAlaValSerThr
XM_006716380.2:c.527_544dup	XP_006716443.1:p.Thr181_Leu182insArgMetAlaValSerThr
XM_011544612.1:c.386_403dup	XP_011542914.1:p.Thr134_Leu135insArgMetAlaValSerThr
XM_011544613.1:c.386_403dup	XP_011542915.1:p.Thr134_Leu135insArgMetAlaValSerThr
NM_001317778.1:c.527_544dup	NP_001304707.1:p.Thr181_Leu182insArgMetAlaValSerThr
NM_001317779.1:c.386_403dup	NP_001304708.1:p.Thr134_Leu135insArgMetAlaValSerThr
NM_001317780.1:c.527_544dup	NP_001304709.1:p.Thr181_Leu182insArgMetAlaValSerThr
XM_011544613.3:c.386_403dup	XP_011542915.1:p.Thr134_Leu135insArgMetAlaValSerThr
NM_001172357.2:c.527_544dup	NP_001165828.1:p.Thr181_Leu182insArgMetAlaValSerThr
NM_001172410.2:c.545_562dup	NP_001165881.1:p.Thr187_Leu188insArgMetAlaValSerThr
NM_001317778.2:c.527_544dup MANE Select	NP_001304707.1:p.Thr181_Leu182insArgMetAlaValSerThr
NM_001317779.2:c.386_403dup	NP_001304708.1:p.Thr134_Leu135insArgMetAlaValSerThr
NM_001317780.2:c.527_544dup	NP_001304709.1:p.Thr181_Leu182insArgMetAlaValSerThr
NM_003018.4:c.545_562dup	NP_003009.2:p.Thr187_Leu188insArgMetAlaValSerThr
NM_001385653.1:c.545_562dup	NP_001372582.1:p.Thr187_Leu188insArgMetAlaValSerThr
NM_001385654.1:c.545_562dup	NP_001372583.1:p.Thr187_Leu188insArgMetAlaValSerThr
NM_001385655.1:c.545_562dup	NP_001372584.1:p.Thr187_Leu188insArgMetAlaValSerThr
NM_001385656.1:c.527_544dup	NP_001372585.1:p.Thr181_Leu182insArgMetAlaValSerThr
NM_001385657.1:c.527_544dup	NP_001372586.1:p.Thr181_Leu182insArgMetAlaValSerThr
NM_001385658.1:c.527_544dup	NP_001372587.1:p.Thr181_Leu182insArgMetAlaValSerThr
NM_001385659.1:c.527_544dup	NP_001372588.1:p.Thr181_Leu182insArgMetAlaValSerThr
NM_001385660.1:c.386_403dup	NP_001372589.1:p.Thr134_Leu135insArgMetAlaValSerThr