Canonical Allele Identifier: CA2545339100
Gene: SERPINB7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.63805235_63805236del , CM000680.2:g.63805235_63805236del GRCh38
NC_000018.9:g.61472469_61472470del , CM000680.1:g.61472469_61472470del GRCh37
NC_000018.8:g.59623449_59623450del NCBI36
NG_034150.1:g.57189_57190del

Transcript Alleles

HGVS Amino-acid Change
ENST00000398019.7:c.*600_*601del MANE Select ENSP00000381101.2:n.*600_*601del
ENST00000336429.6:c.*600_*601del ENSP00000337212.2:n.*600_*601del
ENST00000398019.6:c.*600_*601del ENSP00000381101.2:n.*600_*601del
ENST00000540675.5:c.*600_*601del ENSP00000444572.1:n.*600_*601del
ENST00000546027.5:c.*600_*601del ENSP00000444861.1:n.*600_*601del
NM_001040147.2:c.*600_*601del NP_001035237.1:n.*600_*601del
NM_001261830.1:c.*600_*601del NP_001248759.1:n.*600_*601del
NM_001261831.1:c.*600_*601del NP_001248760.1:n.*600_*601del
NM_003784.3:c.*600_*601del NP_003775.1:n.*600_*601del
XM_006722562.1:c.*600_*601del XP_006722625.1:n.*600_*601del
XM_011526236.1:c.*600_*601del XP_011524538.1:n.*600_*601del
XM_024451278.1:c.*600_*601del XP_024307046.1:n.*600_*601del
NM_003784.4:c.*600_*601del MANE Select NP_003775.1:n.*600_*601del
NM_001040147.3:c.*600_*601del NP_001035237.1:n.*600_*601del
NM_001261830.2:c.*600_*601del NP_001248759.1:n.*600_*601del
NM_001261831.2:c.*600_*601del NP_001248760.1:n.*600_*601del