Canonical Allele Identifier: CA638352881
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 627091
ClinVar RCV Id: RCV000851819
dbSNP Id: rs1254692009
gnomAD v2: 22-19711921-C-CA
gnomAD v4: 22-19724398-C-CA
MyVariant Identifiers: chr22:g.19711921_19711922insA (hg19) chr22:g.19724398_19724399insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724398_19724399insA , CM000684.2:g.19724398_19724399insA GRCh38
NC_000022.10:g.19711921_19711922insA , CM000684.1:g.19711921_19711922insA GRCh37
NC_000022.9:g.18091921_18091922insA NCBI36
NG_007974.1:g.5856_5857insA , LRG_478:g.5856_5857insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.555_556insA (GP1BB) MANE Select ENSP00000383382.2:p.Ala186SerfsTer?
ENST00000366425.3:c.555_556insA (GP1BB) ENSP00000383382.2:p.Ala186SerfsTer?
ENST00000431044.5:c.*1640_*1641insA (SEPTIN5) ENSP00000399685.1:n.*1640_*1641insA
NM_000407.4:c.555_556insA , LRG_478t1:c.555_556insA (GP1BB) NP_000398.1:p.Ala186SerfsTer?
NR_037611.1:n.4295_4296insA
NR_037612.1:n.2799_2800insA
NM_000407.5:c.555_556insA (GP1BB) MANE Select NP_000398.1:p.Ala186SerfsTer?
Search 100 bp 5'
Search 100 bp 3'