Canonical Allele Identifier: CA2658995317

Gene: STON1-GTF2A1L

Linked Data

• gnomAD v4: 2-48755858-G-GACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755860_48755863dup , CM000664.2:g.48755860_48755863dup	GRCh38
NC_000002.11:g.48982999_48983002dup , CM000664.1:g.48982999_48983002dup	GRCh37
NC_000002.10:g.48836503_48836506dup	NCBI36
NG_008193.1:g.4880_4883dup
NG_033050.1:g.230936_230939dup
NG_008193.2:g.4880_4883dup
NG_033050.2:g.230936_230939dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402114.6:c.3442-20420_3442-20417dup	ENSP00000385701.1:n.3442-20420_3442-20417dup
NM_001198593.1:c.3442-20420_3442-20417dup	NP_001185522.1:n.3442-20420_3442-20417dup
NM_001198593.2:c.3442-20420_3442-20417dup	NP_001185522.1:n.3442-20420_3442-20417dup