Canonical Allele Identifier: CA1030381985

Gene: STON1-GTF2A1L

Linked Data

• gnomAD v3: 2-48755793-G-GCCC
• gnomAD v4: 2-48755793-G-GCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755794_48755796dup , CM000664.2:g.48755794_48755796dup	GRCh38
NC_000002.11:g.48982933_48982935dup , CM000664.1:g.48982933_48982935dup	GRCh37
NC_000002.10:g.48836437_48836439dup	NCBI36
NG_008193.1:g.4946_4948dup
NG_033050.1:g.230870_230872dup
NG_008193.2:g.4946_4948dup
NG_033050.2:g.230870_230872dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402114.6:c.3442-20486_3442-20484dup	ENSP00000385701.1:n.3442-20486_3442-20484dup
NM_001198593.1:c.3442-20486_3442-20484dup	NP_001185522.1:n.3442-20486_3442-20484dup
NM_001198593.2:c.3442-20486_3442-20484dup	NP_001185522.1:n.3442-20486_3442-20484dup