Canonical Allele Identifier: CA2536212281
Gene: SERPINB7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.63805242_63805244del , CM000680.2:g.63805242_63805244del GRCh38
NC_000018.9:g.61472476_61472478del , CM000680.1:g.61472476_61472478del GRCh37
NC_000018.8:g.59623456_59623458del NCBI36
NG_034150.1:g.57196_57198del

Transcript Alleles

HGVS Amino-acid Change
ENST00000398019.7:c.*607_*609del MANE Select ENSP00000381101.2:n.*607_*609del
ENST00000336429.6:c.*607_*609del ENSP00000337212.2:n.*607_*609del
ENST00000398019.6:c.*607_*609del ENSP00000381101.2:n.*607_*609del
ENST00000540675.5:c.*607_*609del ENSP00000444572.1:n.*607_*609del
ENST00000546027.5:c.*607_*609del ENSP00000444861.1:n.*607_*609del
NM_001040147.2:c.*607_*609del NP_001035237.1:n.*607_*609del
NM_001261830.1:c.*607_*609del NP_001248759.1:n.*607_*609del
NM_001261831.1:c.*607_*609del NP_001248760.1:n.*607_*609del
NM_003784.3:c.*607_*609del NP_003775.1:n.*607_*609del
XM_006722562.1:c.*607_*609del XP_006722625.1:n.*607_*609del
XM_011526236.1:c.*607_*609del XP_011524538.1:n.*607_*609del
XM_024451278.1:c.*607_*609del XP_024307046.1:n.*607_*609del
NM_003784.4:c.*607_*609del MANE Select NP_003775.1:n.*607_*609del
NM_001040147.3:c.*607_*609del NP_001035237.1:n.*607_*609del
NM_001261830.2:c.*607_*609del NP_001248759.1:n.*607_*609del
NM_001261831.2:c.*607_*609del NP_001248760.1:n.*607_*609del