Canonical Allele Identifier: CA1266878774

Gene: SFTPB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85666645del , CM000664.2:g.85666645del	GRCh38
NC_000002.11:g.85893768del , CM000664.1:g.85893768del	GRCh37
NC_000002.10:g.85747279del	NCBI36
NG_016967.1:g.7097del

Transcript Alleles

HGVS	Amino-acid Change
NM_000542.5:c.365del MANE Select	NP_000533.4:p.Leu122ArgfsTer?
ENST00000519937.7:c.365del MANE Select	ENSP00000428719.2:p.Leu122ArgfsTer?
NM_000542.3:c.401del	NP_000533.3:p.Leu134ArgfsTer?
NM_000542.4:c.365del	NP_000533.4:p.Leu122ArgfsTer?
NM_001367281.1:c.365del	NP_001354210.1:p.Leu122ArgfsTer?
NM_198843.2:c.401del	NP_942140.2:p.Leu134ArgfsTer?
NM_198843.3:c.365del	NP_942140.3:p.Leu122ArgfsTer?
ENST00000393822.7:c.365del	ENSP00000377409.4:p.Leu122ArgfsTer?
ENST00000409383.5:c.401del	ENSP00000386346.1:p.Leu134ArgfsTer?
ENST00000409383.6:c.365del	ENSP00000386346.2:p.Leu122ArgfsTer?
ENST00000428225.5:c.354del
ENST00000473692.1:n.371del
ENST00000519937.6:c.365del	ENSP00000428719.2:p.Leu122ArgfsTer?
XM_005264487.2:c.401del	XP_005264544.1:p.Leu134ArgfsTer?
XM_005264488.2:c.365del	XP_005264545.2:p.Leu122ArgfsTer?
XM_005264488.4:c.365del	XP_005264545.2:p.Leu122ArgfsTer?
XM_005264490.3:c.365del	XP_005264547.2:p.Leu122ArgfsTer?
XM_005264490.4:c.365del	XP_005264547.2:p.Leu122ArgfsTer?