Canonical Allele Identifier: CA2156074213
Gene: SERPINA3 HGNC NCBI

Linked Data

dbSNP Id: rs1689172074

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94619546del , CM000676.2:g.94619546del GRCh38
NC_000014.8:g.95085883del , CM000676.1:g.95085883del GRCh37
NC_000014.7:g.94155636del NCBI36
NG_012879.1:g.12170del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393078.5:c.917+78del MANE Select ENSP00000376793.3:n.917+78del
ENST00000393078.4:c.917+78del ENSP00000376793.3:n.917+78del
ENST00000393080.8:c.917+78del ENSP00000376795.4:n.917+78del
ENST00000467132.5:c.917+78del ENSP00000450540.1:n.917+78del
ENST00000482740.2:c.263+78del ENSP00000451119.1:n.263+78del
ENST00000553947.1:c.1880+78del
ENST00000556388.1:n.58-2795del
ENST00000556968.2:c.644-2795del ENSP00000452476.1:n.644-2795del
ENST00000621603.1:c.214del
NM_001085.4:c.917+78del NP_001076.2:n.917+78del
NM_001085.5:c.917+78del MANE Select NP_001076.2:n.917+78del
NM_001384672.1:c.917+78del NP_001371601.1:n.917+78del
NM_001384673.1:c.917+78del NP_001371602.1:n.917+78del
NM_001384674.1:c.917+78del NP_001371603.1:n.917+78del