Canonical Allele Identifier: CA1030381979

Gene: STON1-GTF2A1L

Linked Data

• gnomAD v3: 2-48755791-CTG-C
• gnomAD v4: 2-48755791-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755792_48755793del , CM000664.2:g.48755792_48755793del	GRCh38
NC_000002.11:g.48982931_48982932del , CM000664.1:g.48982931_48982932del	GRCh37
NC_000002.10:g.48836435_48836436del	NCBI36
NG_008193.1:g.4949_4950del
NG_033050.1:g.230868_230869del
NG_008193.2:g.4949_4950del
NG_033050.2:g.230868_230869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402114.6:c.3442-20488_3442-20487del	ENSP00000385701.1:n.3442-20488_3442-20487del
NM_001198593.1:c.3442-20488_3442-20487del	NP_001185522.1:n.3442-20488_3442-20487del
NM_001198593.2:c.3442-20488_3442-20487del	NP_001185522.1:n.3442-20488_3442-20487del