Canonical Allele Identifier: CA2659874535

Gene: SFTPB

Linked Data

• gnomAD v4: 2-85663434-ACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663435_85663436del , CM000664.2:g.85663435_85663436del	GRCh38
NC_000002.11:g.85890558_85890559del , CM000664.1:g.85890558_85890559del	GRCh37
NC_000002.10:g.85744069_85744070del	NCBI36
NG_016967.1:g.10306_10307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.912_913del	ENSP00000386346.2:p.Val305AspfsTer?
ENST00000519937.7:c.912_913del MANE Select	ENSP00000428719.2:p.Val305AspfsTer?
ENST00000393822.7:c.912_913del	ENSP00000377409.4:p.Val305AspfsTer?
ENST00000409383.5:c.948_949del	ENSP00000386346.1:p.Val317AspfsTer?
ENST00000428225.5:c.889_890del
ENST00000491167.1:n.112_113del
ENST00000494165.1:c.43_44del
ENST00000519937.6:c.912_913del	ENSP00000428719.2:p.Val305AspfsTer?
NM_000542.3:c.948_949del	NP_000533.3:p.Val317AspfsTer?
NM_198843.2:c.948_949del	NP_942140.2:p.Val317AspfsTer?
XM_005264487.2:c.948_949del	XP_005264544.1:p.Val317AspfsTer?
XM_005264488.2:c.900_901del	XP_005264545.2:p.Val301AspfsTer?
XM_005264490.3:c.912_913del	XP_005264547.2:p.Val305AspfsTer?
XM_005264488.4:c.900_901del	XP_005264545.2:p.Val301AspfsTer?
XM_005264490.4:c.912_913del	XP_005264547.2:p.Val305AspfsTer?
NM_000542.4:c.912_913del	NP_000533.4:p.Val305AspfsTer?
NM_001367281.1:c.912_913del	NP_001354210.1:p.Val305AspfsTer?
NM_198843.3:c.912_913del	NP_942140.3:p.Val305AspfsTer?
NM_000542.5:c.912_913del MANE Select	NP_000533.4:p.Val305AspfsTer?