Canonical Allele Identifier: CA2156074244
Gene: SERPINA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94619625_94619629delinsTTTTC , CM000676.2:g.94619625_94619629delinsTTTTC GRCh38
NC_000014.8:g.95085962_95085966delinsTTTTC , CM000676.1:g.95085962_95085966delinsTTTTC GRCh37
NC_000014.7:g.94155715_94155719delinsTTTTC NCBI36
NG_012879.1:g.12249_12253delinsTTTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000393078.5:c.917+157_917+161delinsTTTTC MANE Select ENSP00000376793.3:n.917+157_917+161delinsTTTTC
ENST00000393078.4:c.917+157_917+161delinsTTTTC ENSP00000376793.3:n.917+157_917+161delinsTTTTC
ENST00000393080.8:c.917+157_917+161delinsTTTTC ENSP00000376795.4:n.917+157_917+161delinsTTTTC
ENST00000467132.5:c.917+157_917+161delinsTTTTC ENSP00000450540.1:n.917+157_917+161delinsTTTTC
ENST00000482740.2:c.263+157_263+161delinsTTTTC ENSP00000451119.1:n.263+157_263+161delinsTTTTC
ENST00000553947.1:c.1880+157_1880+161delinsTTTTC
ENST00000556388.1:n.58-2716_58-2712delinsTTTTC
ENST00000556968.2:c.644-2716_644-2712delinsTTTTC ENSP00000452476.1:n.644-2716_644-2712delinsTTTTC
ENST00000621603.1:c.293_297delinsTTTTC
NM_001085.4:c.917+157_917+161delinsTTTTC NP_001076.2:n.917+157_917+161delinsTTTTC
NM_001085.5:c.917+157_917+161delinsTTTTC MANE Select NP_001076.2:n.917+157_917+161delinsTTTTC
NM_001384672.1:c.917+157_917+161delinsTTTTC NP_001371601.1:n.917+157_917+161delinsTTTTC
NM_001384673.1:c.917+157_917+161delinsTTTTC NP_001371602.1:n.917+157_917+161delinsTTTTC
NM_001384674.1:c.917+157_917+161delinsTTTTC NP_001371603.1:n.917+157_917+161delinsTTTTC