Canonical Allele Identifier: CA2658995327
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48755867-ACCT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755871_48755873del , CM000664.2:g.48755871_48755873del GRCh38
NC_000002.11:g.48983010_48983012del , CM000664.1:g.48983010_48983012del GRCh37
NC_000002.10:g.48836514_48836516del NCBI36
NG_008193.1:g.4872_4874del
NG_033050.1:g.230947_230949del
NG_008193.2:g.4872_4874del
NG_033050.2:g.230947_230949del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20409_3442-20407del ENSP00000385701.1:n.3442-20409_3442-20407del
NM_001198593.1:c.3442-20409_3442-20407del NP_001185522.1:n.3442-20409_3442-20407del
NM_001198593.2:c.3442-20409_3442-20407del NP_001185522.1:n.3442-20409_3442-20407del
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