Canonical Allele Identifier: CA211318076
Gene: STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs879402104
gnomAD v3: 10-88934852-A-AT
gnomAD v4: 10-88934852-A-AT
MyVariant Identifiers: chr10:g.90694609_90694610insT (hg19) chr10:g.88934852_88934853insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88934858dup , CM000672.2:g.88934858dup GRCh38
NC_000010.10:g.90694615dup , CM000672.1:g.90694615dup GRCh37
NC_000010.9:g.90684595dup NCBI36
NG_011541.1:g.61538dup , LRG_781:g.61538dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371927.7:c.1254+12422dup (STAMBPL1) ENSP00000360995.3:n.1254+12422dup
NR_125373.1:n.523-40dup (ACTA2-AS1)
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