Canonical Allele Identifier: CA1097665423
Gene: GNA12 HGNC NCBI

Linked Data

dbSNP Id: rs1736481718
gnomAD v3: 7-2830385-TC-T
gnomAD v4: 7-2830385-TC-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2830386del , CM000669.2:g.2830386del GRCh38
NC_000007.13:g.2870020del , CM000669.1:g.2870020del GRCh37
NC_000007.12:g.2836546del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000275364.8:c.309+13467del MANE Select ENSP00000275364.3:n.309+13467del
ENST00000275364.7:c.309+13467del ENSP00000275364.3:n.309+13467del
NM_001293092.1:c.309+13467del NP_001280021.1:n.309+13467del
NM_007353.2:c.309+13467del NP_031379.2:n.309+13467del
XM_011515288.1:c.19-35243del XP_011513590.1:n.19-35243del
XM_011515288.3:c.19-35243del XP_011513590.1:n.19-35243del
NM_007353.3:c.309+13467del MANE Select NP_031379.2:n.309+13467del
NM_001293092.2:c.309+13467del NP_001280021.1:n.309+13467del