Canonical Allele Identifier: CA2659874633

Gene: SFTPB

Linked Data

• gnomAD v4: 2-85663666-GGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663667_85663670del , CM000664.2:g.85663667_85663670del	GRCh38
NC_000002.11:g.85890790_85890793del , CM000664.1:g.85890790_85890793del	GRCh37
NC_000002.10:g.85744301_85744304del	NCBI36
NG_016967.1:g.10072_10075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.850_853del	ENSP00000386346.2:p.Gly284GlnfsTer21
ENST00000519937.7:c.850_853del MANE Select	ENSP00000428719.2:p.Gly284GlnfsTer21
ENST00000393822.7:c.850_853del	ENSP00000377409.4:p.Gly284GlnfsTer21
ENST00000409383.5:c.886_889del	ENSP00000386346.1:p.Gly296GlnfsTer21
ENST00000428225.5:c.839_842del
ENST00000519937.6:c.850_853del	ENSP00000428719.2:p.Gly284GlnfsTer21
NM_000542.3:c.886_889del	NP_000533.3:p.Gly296GlnfsTer21
NM_198843.2:c.886_889del	NP_942140.2:p.Gly296GlnfsTer21
XM_005264487.2:c.886_889del	XP_005264544.1:p.Gly296GlnfsTer21
XM_005264488.2:c.850_853del	XP_005264545.2:p.Gly284GlnfsTer17
XM_005264490.3:c.850_853del	XP_005264547.2:p.Gly284GlnfsTer21
XM_005264488.4:c.850_853del	XP_005264545.2:p.Gly284GlnfsTer17
XM_005264490.4:c.850_853del	XP_005264547.2:p.Gly284GlnfsTer21
NM_000542.4:c.850_853del	NP_000533.4:p.Gly284GlnfsTer21
NM_001367281.1:c.850_853del	NP_001354210.1:p.Gly284GlnfsTer21
NM_198843.3:c.850_853del	NP_942140.3:p.Gly284GlnfsTer21
NM_000542.5:c.850_853del MANE Select	NP_000533.4:p.Gly284GlnfsTer21