Canonical Allele Identifier: CA1030381971
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

gnomAD v3: 2-48755786-CG-C
gnomAD v4: 2-48755786-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755787del , CM000664.2:g.48755787del GRCh38
NC_000002.11:g.48982926del , CM000664.1:g.48982926del GRCh37
NC_000002.10:g.48836430del NCBI36
NG_008193.1:g.4955del
NG_033050.1:g.230863del
NG_008193.2:g.4955del
NG_033050.2:g.230863del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20493del ENSP00000385701.1:n.3442-20493del
NM_001198593.1:c.3442-20493del NP_001185522.1:n.3442-20493del
NM_001198593.2:c.3442-20493del NP_001185522.1:n.3442-20493del
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