Canonical Allele Identifier: CA2658995158

Gene: STON1-GTF2A1L

Linked Data

• gnomAD v4: 2-48755728-G-GCCCGCACCCCTCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755734_48755747dup , CM000664.2:g.48755734_48755747dup	GRCh38
NC_000002.11:g.48982873_48982886dup , CM000664.1:g.48982873_48982886dup	GRCh37
NC_000002.10:g.48836377_48836390dup	NCBI36
NG_008193.1:g.5000_5013dup
NG_033050.1:g.230810_230823dup
NG_008193.2:g.5000_5013dup
NG_033050.2:g.230810_230823dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402114.6:c.3442-20546_3442-20533dup	ENSP00000385701.1:n.3442-20546_3442-20533dup
NM_001198593.1:c.3442-20546_3442-20533dup	NP_001185522.1:n.3442-20546_3442-20533dup
NM_001198593.2:c.3442-20546_3442-20533dup	NP_001185522.1:n.3442-20546_3442-20533dup