Canonical Allele Identifier: CA2658995338
Gene: STON1-GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48755876-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755877del , CM000664.2:g.48755877del GRCh38
NC_000002.11:g.48983016del , CM000664.1:g.48983016del GRCh37
NC_000002.10:g.48836520del NCBI36
NG_008193.1:g.4865del
NG_033050.1:g.230953del
NG_008193.2:g.4865del
NG_033050.2:g.230953del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20403del ENSP00000385701.1:n.3442-20403del
NM_001198593.1:c.3442-20403del NP_001185522.1:n.3442-20403del
NM_001198593.2:c.3442-20403del NP_001185522.1:n.3442-20403del
Search 100 bp 5'
Search 100 bp 3'