Canonical Allele Identifier: CA916530998
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs1553401074
gnomAD v3: 2-48755781-C-CG
gnomAD v4: 2-48755781-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755783dup , CM000664.2:g.48755783dup GRCh38
NC_000002.11:g.48982922dup , CM000664.1:g.48982922dup GRCh37
NC_000002.10:g.48836426dup NCBI36
NG_008193.1:g.4960dup
NG_033050.1:g.230859dup
NG_008193.2:g.4960dup
NG_033050.2:g.230859dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20497dup ENSP00000385701.1:n.3442-20497dup
NM_001198593.1:c.3442-20497dup NP_001185522.1:n.3442-20497dup
NM_001198593.2:c.3442-20497dup NP_001185522.1:n.3442-20497dup
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