Canonical Allele Identifier: CA2577022200

Gene: SFTPB

Linked Data

• gnomAD v4: 2-85663424-CTGGGTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663426_85663432del , CM000664.2:g.85663426_85663432del	GRCh38
NC_000002.11:g.85890549_85890555del , CM000664.1:g.85890549_85890555del	GRCh37
NC_000002.10:g.85744060_85744066del	NCBI36
NG_016967.1:g.10311_10317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.917_923del	ENSP00000386346.2:p.Thr306ArgfsTer?
ENST00000519937.7:c.917_923del MANE Select	ENSP00000428719.2:p.Thr306ArgfsTer?
ENST00000393822.7:c.917_923del	ENSP00000377409.4:p.Thr306ArgfsTer?
ENST00000409383.5:c.953_959del	ENSP00000386346.1:p.Thr318ArgfsTer?
ENST00000428225.5:c.894_900del
ENST00000491167.1:n.117_123del
ENST00000494165.1:c.48_54del
ENST00000519937.6:c.917_923del	ENSP00000428719.2:p.Thr306ArgfsTer?
NM_000542.3:c.953_959del	NP_000533.3:p.Thr318ArgfsTer?
NM_198843.2:c.953_959del	NP_942140.2:p.Thr318ArgfsTer?
XM_005264487.2:c.953_959del	XP_005264544.1:p.Thr318ArgfsTer?
XM_005264488.2:c.905_911del	XP_005264545.2:p.Thr302ArgfsTer?
XM_005264490.3:c.917_923del	XP_005264547.2:p.Thr306ArgfsTer?
XM_005264488.4:c.905_911del	XP_005264545.2:p.Thr302ArgfsTer?
XM_005264490.4:c.917_923del	XP_005264547.2:p.Thr306ArgfsTer?
NM_000542.4:c.917_923del	NP_000533.4:p.Thr306ArgfsTer?
NM_001367281.1:c.917_923del	NP_001354210.1:p.Thr306ArgfsTer?
NM_198843.3:c.917_923del	NP_942140.3:p.Thr306ArgfsTer?
NM_000542.5:c.917_923del MANE Select	NP_000533.4:p.Thr306ArgfsTer?