ClinGen Allele Registry
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Canonical Allele Identifier:
CA2499226291
Gene: SERPINA7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9800
ClinVar RCV Id:
RCV000010473
dbSNP Id:
rs2147840474
JSON-LD
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
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