Canonical Allele Identifier: CA2609869151

Gene: SFTPA2

Linked Data

• gnomAD v4: 10-79559427-CGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79559431_79559433del , CM000672.2:g.79559431_79559433del	GRCh38
NC_000010.10:g.81319187_81319189del , CM000672.1:g.81319187_81319189del	GRCh37
NG_013046.1:g.5978_5980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372325.7:c.54_56del MANE Select	ENSP00000361400.2:p.Ala19del
ENST00000640627.1:c.99_101del	ENSP00000492537.1:p.Ala34del
ENST00000372325.6:c.54_56del	ENSP00000361400.2:p.Ala19del
ENST00000372327.9:c.54_56del	ENSP00000361402.5:p.Ala19del
ENST00000417041.1:c.54_56del	ENSP00000397375.1:p.Ala19del
ENST00000492049.1:c.54_56del	ENSP00000473275.1:p.Ala19del
NM_001098668.2:c.54_56del	NP_001092138.1:p.Ala19del
XM_005270128.2:c.105_107del	XP_005270185.1:p.Ala36del
XM_005270131.3:c.54_56del	XP_005270188.1:p.Ala19del
XM_005270132.3:c.54_56del	XP_005270189.1:p.Ala19del
XM_011540124.1:c.54_56del	XP_011538426.1:p.Ala19del
XM_011540125.1:c.54_56del	XP_011538427.1:p.Ala19del
NM_001098668.3:c.54_56del	NP_001092138.1:p.Ala19del
NM_001320813.1:c.54_56del	NP_001307742.1:p.Ala19del
NM_001320814.1:c.84_86del	NP_001307743.1:p.Ala29del
XM_005270128.3:c.105_107del	XP_005270185.1:p.Ala36del
XM_017016608.1:c.54_56del	XP_016872097.1:p.Ala19del
NM_001098668.4:c.54_56del MANE Select	NP_001092138.1:p.Ala19del
NM_001320813.2:c.54_56del	NP_001307742.1:p.Ala19del