Canonical Allele Identifier: CA2515836603

Gene: STON1-GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755796_48755797insCCCCCCCCCCCT , CM000664.2:g.48755796_48755797insCCCCCCCCCCCT	GRCh38
NC_000002.11:g.48982935_48982936insCCCCCCCCCCCT , CM000664.1:g.48982935_48982936insCCCCCCCCCCCT	GRCh37
NC_000002.10:g.48836439_48836440insCCCCCCCCCCCT	NCBI36
NG_008193.1:g.4945_4946insAGGGGGGGGGGG
NG_033050.1:g.230872_230873insCCCCCCCCCCCT
NG_008193.2:g.4945_4946insAGGGGGGGGGGG
NG_033050.2:g.230872_230873insCCCCCCCCCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402114.6:c.3442-20484_3442-20483insCCCCCCCCCCCT	ENSP00000385701.1:n.3442-20484_3442-20483insCCCCCCCCCCCT
NM_001198593.1:c.3442-20484_3442-20483insCCCCCCCCCCCT	NP_001185522.1:n.3442-20484_3442-20483insCCCCCCCCCCCT
NM_001198593.2:c.3442-20484_3442-20483insCCCCCCCCCCCT	NP_001185522.1:n.3442-20484_3442-20483insCCCCCCCCCCCT