Canonical Allele Identifier: CA595185069
Gene: STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1554840654
gnomAD v2: 10-90694793-G-GT
gnomAD v3: 10-88935036-G-GT
gnomAD v4: 10-88935036-G-GT
MyVariant Identifiers: chr10:g.90694793_90694794insT (hg19) chr10:g.88935036_88935037insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88935037dup , CM000672.2:g.88935037dup GRCh38
NC_000010.10:g.90694794dup , CM000672.1:g.90694794dup GRCh37
NC_000010.9:g.90684774dup NCBI36
NG_011541.1:g.61354dup , LRG_781:g.61354dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371927.7:c.1254+12601dup (STAMBPL1) ENSP00000360995.3:n.1254+12601dup
NR_125373.1:n.662dup (ACTA2-AS1)
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