Canonical Allele Identifier: CA2658995243
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48755808-CCGCGCACCCCGCTGAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755809_48755824del , CM000664.2:g.48755809_48755824del GRCh38
NC_000002.11:g.48982948_48982963del , CM000664.1:g.48982948_48982963del GRCh37
NC_000002.10:g.48836452_48836467del NCBI36
NG_008193.1:g.4918_4933del
NG_033050.1:g.230885_230900del
NG_008193.2:g.4918_4933del
NG_033050.2:g.230885_230900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20471_3442-20456del ENSP00000385701.1:n.3442-20471_3442-20456del
NM_001198593.1:c.3442-20471_3442-20456del NP_001185522.1:n.3442-20471_3442-20456del
NM_001198593.2:c.3442-20471_3442-20456del NP_001185522.1:n.3442-20471_3442-20456del
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