Canonical Allele Identifier: CA2626332429
Gene: SERPINA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94619055_94619060del , CM000676.2:g.94619055_94619060del GRCh38
NC_000014.8:g.95085392_95085397del , CM000676.1:g.95085392_95085397del GRCh37
NC_000014.7:g.94155145_94155150del NCBI36
NG_012879.1:g.11679_11684del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393078.5:c.644-140_644-135del MANE Select ENSP00000376793.3:n.644-140_644-135del
ENST00000393078.4:c.644-140_644-135del ENSP00000376793.3:n.644-140_644-135del
ENST00000393080.8:c.644-140_644-135del ENSP00000376795.4:n.644-140_644-135del
ENST00000467132.5:c.644-140_644-135del ENSP00000450540.1:n.644-140_644-135del
ENST00000482740.2:c.-151_-146del ENSP00000451119.1:n.-151_-146del
ENST00000553947.1:c.1607-140_1607-135del
ENST00000555820.1:c.644-140_644-135del ENSP00000452246.3:n.644-140_644-135del
ENST00000556388.1:n.58-3286_58-3281del
ENST00000556968.2:c.644-3286_644-3281del ENSP00000452476.1:n.644-3286_644-3281del
NM_001085.4:c.644-140_644-135del NP_001076.2:n.644-140_644-135del
NM_001085.5:c.644-140_644-135del MANE Select NP_001076.2:n.644-140_644-135del
NM_001384672.1:c.644-140_644-135del NP_001371601.1:n.644-140_644-135del
NM_001384673.1:c.644-140_644-135del NP_001371602.1:n.644-140_644-135del
NM_001384674.1:c.644-140_644-135del NP_001371603.1:n.644-140_644-135del