Canonical Allele Identifier: CA347671

Gene: SERPINA1

Linked Data

• ClinVar Variation Id: 315028
• ClinVar RCV Id: RCV000019568 ; RCV000262058 ; RCV000594562 ; RCV003417992
• dbSNP Id: rs775982338
• ExAC: 14:94849345 GAGA / G
• gnomAD v2: 14-94849345-GAGA-G
• gnomAD v3: 14-94383008-GAGA-G
• gnomAD v4: 14-94383008-GAGA-G
• MyVariant Identifiers: chr14:g.94849346_94849348del (hg19) ; chr14:g.94383009_94383011del (hg38)
• PubMed: PMID:2606478 ; PMID:2786335 ; PMID:2788166 ; PMID:3491442 ; PMID:6600898 ; PMID:14985567 ; PMID:15744045 ; PMID:18515255 ; PMID:19747908 ; PMID:20301692 ; PMID:22291048 ; PMID:24183282 ; PMID:24713750 ; PMID:24969923

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94383015_94383017del , CM000676.2:g.94383015_94383017del	GRCh38
NC_000014.8:g.94849352_94849354del , CM000676.1:g.94849352_94849354del	GRCh37
NC_000014.7:g.93919105_93919107del	NCBI36
NG_008290.1:g.12682_12684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393087.9:c.227_229del MANE Select	ENSP00000376802.4:p.Phe76del
ENST00000636712.1:c.227_229del	ENSP00000490054.1:p.Phe76del
ENST00000355814.8:c.227_229del	ENSP00000348068.4:p.Phe76del
ENST00000393087.8:c.227_229del	ENSP00000376802.4:p.Phe76del
ENST00000393088.8:c.227_229del	ENSP00000376803.4:p.Phe76del
ENST00000402629.1:c.227_229del	ENSP00000386094.1:p.Phe76del
ENST00000404814.8:c.227_229del	ENSP00000385960.4:p.Phe76del
ENST00000437397.5:c.227_229del	ENSP00000408474.1:p.Phe76del
ENST00000440909.5:c.227_229del	ENSP00000390299.1:p.Phe76del
ENST00000448921.5:c.227_229del	ENSP00000416066.1:p.Phe76del
ENST00000449399.7:c.227_229del	ENSP00000416354.3:p.Phe76del
ENST00000489769.1:c.227_229del	ENSP00000451525.1:p.Phe76del
ENST00000553327.5:c.227_229del	ENSP00000452480.1:p.Phe76del
ENST00000554720.1:c.-23-9_-23-7del	ENSP00000450561.1:n.-23-9_-23-7del
ENST00000556091.1:c.227_229del	ENSP00000452169.1:p.Phe76del
ENST00000556955.5:c.227_229del	ENSP00000451098.1:p.Phe76del
ENST00000557492.5:c.227_229del	ENSP00000452452.1:p.Phe76del
NM_000295.4:c.227_229del	NP_000286.3:p.Phe76del
NM_001002235.2:c.227_229del	NP_001002235.1:p.Phe76del
NM_001002236.2:c.227_229del	NP_001002236.1:p.Phe76del
NM_001127700.1:c.227_229del	NP_001121172.1:p.Phe76del
NM_001127701.1:c.227_229del	NP_001121173.1:p.Phe76del
NM_001127702.1:c.227_229del	NP_001121174.1:p.Phe76del
NM_001127703.1:c.227_229del	NP_001121175.1:p.Phe76del
NM_001127704.1:c.227_229del	NP_001121176.1:p.Phe76del
NM_001127705.1:c.227_229del	NP_001121177.1:p.Phe76del
NM_001127706.1:c.227_229del	NP_001121178.1:p.Phe76del
NM_001127707.1:c.227_229del	NP_001121179.1:p.Phe76del
XM_017021370.1:c.227_229del	XP_016876859.1:p.Phe76del
NM_000295.5:c.227_229del MANE Select	NP_000286.3:p.Phe76del
NM_001002235.3:c.227_229del	NP_001002235.1:p.Phe76del
NM_001002236.3:c.227_229del	NP_001002236.1:p.Phe76del
NM_001127700.2:c.227_229del	NP_001121172.1:p.Phe76del
NM_001127701.2:c.227_229del	NP_001121173.1:p.Phe76del
NM_001127702.2:c.227_229del	NP_001121174.1:p.Phe76del
NM_001127703.2:c.227_229del	NP_001121175.1:p.Phe76del
NM_001127704.2:c.227_229del	NP_001121176.1:p.Phe76del
NM_001127705.2:c.227_229del	NP_001121177.1:p.Phe76del
NM_001127706.2:c.227_229del	NP_001121178.1:p.Phe76del
NM_001127707.2:c.227_229del	NP_001121179.1:p.Phe76del