Canonical Allele Identifier: CA2658995263

Gene: STON1-GTF2A1L

Linked Data

• gnomAD v4: 2-48755823-A-AGCAGACTCAGCGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755824_48755825insCAGACTCAGCGGGG , CM000664.2:g.48755824_48755825insCAGACTCAGCGGGG	GRCh38
NC_000002.11:g.48982963_48982964insCAGACTCAGCGGGG , CM000664.1:g.48982963_48982964insCAGACTCAGCGGGG	GRCh37
NC_000002.10:g.48836467_48836468insCAGACTCAGCGGGG	NCBI36
NG_008193.1:g.4918_4919insCCCGCTGAGTCTGC
NG_033050.1:g.230900_230901insCAGACTCAGCGGGG
NG_008193.2:g.4918_4919insCCCGCTGAGTCTGC
NG_033050.2:g.230900_230901insCAGACTCAGCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402114.6:c.3442-20456_3442-20455insCAGACTCAGCGGGG	ENSP00000385701.1:n.3442-20456_3442-20455insCAGACTCAGCGGGG
NM_001198593.1:c.3442-20456_3442-20455insCAGACTCAGCGGGG	NP_001185522.1:n.3442-20456_3442-20455insCAGACTCAGCGGGG
NM_001198593.2:c.3442-20456_3442-20455insCAGACTCAGCGGGG	NP_001185522.1:n.3442-20456_3442-20455insCAGACTCAGCGGGG