Canonical Allele Identifier: CA16041709
Gene: SERPINA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370385
ClinVar RCV Id: RCV000410206
dbSNP Id: rs1057516448

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94381075del , CM000676.2:g.94381075del GRCh38
NC_000014.8:g.94847412del , CM000676.1:g.94847412del GRCh37
NC_000014.7:g.93917165del NCBI36
NG_008290.1:g.14619del

Transcript Alleles

HGVS Amino-acid change
NM_000295.4:c.714del VV NP_000286.3:p.Thr239ProfsTer2
NM_001002235.2:c.714del VV NP_001002235.1:p.Thr239ProfsTer2
NM_001002236.2:c.714del VV NP_001002236.1:p.Thr239ProfsTer2
NM_001127700.1:c.714del VV NP_001121172.1:p.Thr239ProfsTer2
NM_001127701.1:c.714del VV NP_001121173.1:p.Thr239ProfsTer2
NM_001127702.1:c.714del VV NP_001121174.1:p.Thr239ProfsTer2
NM_001127703.1:c.714del VV NP_001121175.1:p.Thr239ProfsTer2
NM_001127704.1:c.714del VV NP_001121176.1:p.Thr239ProfsTer2
NM_001127705.1:c.714del VV NP_001121177.1:p.Thr239ProfsTer2
NM_001127706.1:c.714del VV NP_001121178.1:p.Thr239ProfsTer2
NM_001127707.1:c.714del VV NP_001121179.1:p.Thr239ProfsTer2
XM_017021370.1:c.714del XP_016876859.1:p.Thr239ProfsTer2
ENST00000355814.8:c.714del ENSP00000348068.4:p.Thr239ProfsTer2
ENST00000393087.8:c.714del ENSP00000376802.4:p.Thr239ProfsTer2
ENST00000393088.8:c.714del ENSP00000376803.4:p.Thr239ProfsTer2
ENST00000402629.1:c.714del ENSP00000386094.1:p.Thr239ProfsTer2
ENST00000404814.8:c.714del ENSP00000385960.4:p.Thr239ProfsTer2
ENST00000437397.5:c.714del ENSP00000408474.1:p.Thr239ProfsTer2
ENST00000440909.5:c.714del ENSP00000390299.1:p.Thr239ProfsTer2
ENST00000448921.5:c.714del ENSP00000416066.1:p.Thr239ProfsTer2
ENST00000449399.7:c.714del ENSP00000416354.3:p.Thr239ProfsTer2
ENST00000489769.1:c.714del ENSP00000451525.1:p.Thr239ProfsTer2