Canonical Allele Identifier: CA2499226291
Gene: SERPINA7 HGNC NCBI

Linked Data

ClinVar Variation Id: 9800
ClinVar RCV Id: RCV000010473
dbSNP Id: rs2147840474

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.106033704del , CM000685.2:g.106033704del GRCh38
NC_000023.10:g.105277695del , CM000685.1:g.105277695del GRCh37
NC_000023.9:g.105164351del NCBI36
NG_021252.1:g.10025del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372563.2:c.1045del
ENST00000327674.8:c.1045del
ENST00000372563.1:c.1045del
ENST00000487487.1:n.379del
NM_000354.5:c.1045del
XM_005262180.3:c.1106del XP_005262237.1:p.Gly369AlafsTer?
XM_006724683.1:c.1075del XP_006724746.1:p.Ala359LeufsTer?
XM_005262180.4:c.1106del XP_005262237.1:p.Gly369AlafsTer?
XM_006724683.2:c.1075del XP_006724746.1:p.Ala359LeufsTer?
NM_000354.6:c.1045del