Canonical Allele Identifier: CA2749837930

Gene: STON1-GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755783_48755784insGCCCC , CM000664.2:g.48755783_48755784insGCCCC	GRCh38
NC_000002.11:g.48982922_48982923insGCCCC , CM000664.1:g.48982922_48982923insGCCCC	GRCh37
NC_000002.10:g.48836426_48836427insGCCCC	NCBI36
NG_008193.1:g.4958_4959insGGGGC
NG_033050.1:g.230859_230860insGCCCC
NG_008193.2:g.4958_4959insGGGGC
NG_033050.2:g.230859_230860insGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402114.6:c.3442-20497_3442-20496insGCCCC	ENSP00000385701.1:n.3442-20497_3442-20496insGCCCC
NM_001198593.1:c.3442-20497_3442-20496insGCCCC	NP_001185522.1:n.3442-20497_3442-20496insGCCCC
NM_001198593.2:c.3442-20497_3442-20496insGCCCC	NP_001185522.1:n.3442-20497_3442-20496insGCCCC