Canonical Allele Identifier: CA1266876904

Gene: SFTPB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663419_85663422delinsCCGG , CM000664.2:g.85663419_85663422delinsCCGG	GRCh38
NC_000002.11:g.85890542_85890545delinsCCGG , CM000664.1:g.85890542_85890545delinsCCGG	GRCh37
NC_000002.10:g.85744053_85744056delinsCCGG	NCBI36
NG_016967.1:g.10320_10323delinsCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.926_929delinsCCGG	ENSP00000386346.2:p.Ala309=
ENST00000519937.7:c.926_929delinsCCGG MANE Select	ENSP00000428719.2:p.Ala309=
ENST00000393822.7:c.926_929delinsCCGG	ENSP00000377409.4:p.Ala309=
ENST00000409383.5:c.962_965delinsCCGG	ENSP00000386346.1:p.Ala321=
ENST00000428225.5:c.903_906delinsCCGG
ENST00000491167.1:n.126_129delinsCCGG
ENST00000494165.1:c.57_60delinsCCGG
ENST00000519937.6:c.926_929delinsCCGG	ENSP00000428719.2:p.Ala309=
NM_000542.3:c.962_965delinsCCGG	NP_000533.3:p.Ala321=
NM_198843.2:c.962_965delinsCCGG	NP_942140.2:p.Ala321=
XM_005264487.2:c.962_965delinsCCGG	XP_005264544.1:p.Ala321=
XM_005264488.2:c.914_917delinsCCGG	XP_005264545.2:p.Ala305=
XM_005264490.3:c.926_929delinsCCGG	XP_005264547.2:p.Ala309=
XM_005264488.4:c.914_917delinsCCGG	XP_005264545.2:p.Ala305=
XM_005264490.4:c.926_929delinsCCGG	XP_005264547.2:p.Ala309=
NM_000542.4:c.926_929delinsCCGG	NP_000533.4:p.Ala309=
NM_001367281.1:c.926_929delinsCCGG	NP_001354210.1:p.Ala309=
NM_198843.3:c.926_929delinsCCGG	NP_942140.3:p.Ala309=
NM_000542.5:c.926_929delinsCCGG MANE Select	NP_000533.4:p.Ala309=