Canonical Allele Identifier: CA532559322
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs1266832105
gnomAD v2: 2-48982980-C-CTGCG
gnomAD v3: 2-48755841-C-CTGCG
gnomAD v4: 2-48755841-C-CTGCG
MyVariant Identifiers: chr2:g.48982980_48982981insTGCG (hg19) chr2:g.48755841_48755842insTGCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755842_48755845dup , CM000664.2:g.48755842_48755845dup GRCh38
NC_000002.11:g.48982981_48982984dup , CM000664.1:g.48982981_48982984dup GRCh37
NC_000002.10:g.48836485_48836488dup NCBI36
NG_008193.1:g.4897_4900dup
NG_033050.1:g.230918_230921dup
NG_008193.2:g.4897_4900dup
NG_033050.2:g.230918_230921dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20438_3442-20435dup ENSP00000385701.1:n.3442-20438_3442-20435dup
NM_001198593.1:c.3442-20438_3442-20435dup NP_001185522.1:n.3442-20438_3442-20435dup
NM_001198593.2:c.3442-20438_3442-20435dup NP_001185522.1:n.3442-20438_3442-20435dup
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