Canonical Allele Identifier: CA2156074212
Gene: SERPINA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94619545_94619546delinsGT , CM000676.2:g.94619545_94619546delinsGT GRCh38
NC_000014.8:g.95085882_95085883delinsGT , CM000676.1:g.95085882_95085883delinsGT GRCh37
NC_000014.7:g.94155635_94155636delinsGT NCBI36
NG_012879.1:g.12169_12170delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000393078.5:c.917+77_917+78delinsGT MANE Select ENSP00000376793.3:n.917+77_917+78delinsGT
ENST00000393078.4:c.917+77_917+78delinsGT ENSP00000376793.3:n.917+77_917+78delinsGT
ENST00000393080.8:c.917+77_917+78delinsGT ENSP00000376795.4:n.917+77_917+78delinsGT
ENST00000467132.5:c.917+77_917+78delinsGT ENSP00000450540.1:n.917+77_917+78delinsGT
ENST00000482740.2:c.263+77_263+78delinsGT ENSP00000451119.1:n.263+77_263+78delinsGT
ENST00000553947.1:c.1880+77_1880+78delinsGT
ENST00000556388.1:n.58-2796_58-2795delinsGT
ENST00000556968.2:c.644-2796_644-2795delinsGT ENSP00000452476.1:n.644-2796_644-2795delinsGT
ENST00000621603.1:c.213_214delinsGT
NM_001085.4:c.917+77_917+78delinsGT NP_001076.2:n.917+77_917+78delinsGT
NM_001085.5:c.917+77_917+78delinsGT MANE Select NP_001076.2:n.917+77_917+78delinsGT
NM_001384672.1:c.917+77_917+78delinsGT NP_001371601.1:n.917+77_917+78delinsGT
NM_001384673.1:c.917+77_917+78delinsGT NP_001371602.1:n.917+77_917+78delinsGT
NM_001384674.1:c.917+77_917+78delinsGT NP_001371603.1:n.917+77_917+78delinsGT