Canonical Allele Identifier: CA595185091
Gene: STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1400242195
gnomAD v2: 10-90694638-AT-A
MyVariant Identifiers: chr10:g.90694639del (hg19) chr10:g.88934882del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88934883del , CM000672.2:g.88934883del GRCh38
NC_000010.10:g.90694640del , CM000672.1:g.90694640del GRCh37
NC_000010.9:g.90684620del NCBI36
NG_011541.1:g.61509del , LRG_781:g.61509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371927.7:c.1254+12447del (STAMBPL1) ENSP00000360995.3:n.1254+12447del
NR_125373.1:n.523-15del (ACTA2-AS1)
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