Canonical Allele Identifier: CA2658995277

Gene: STON1-GTF2A1L

Linked Data

• gnomAD v4: 2-48755830-TCTGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755831_48755835del , CM000664.2:g.48755831_48755835del	GRCh38
NC_000002.11:g.48982970_48982974del , CM000664.1:g.48982970_48982974del	GRCh37
NC_000002.10:g.48836474_48836478del	NCBI36
NG_008193.1:g.4907_4911del
NG_033050.1:g.230907_230911del
NG_008193.2:g.4907_4911del
NG_033050.2:g.230907_230911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402114.6:c.3442-20449_3442-20445del	ENSP00000385701.1:n.3442-20449_3442-20445del
NM_001198593.1:c.3442-20449_3442-20445del	NP_001185522.1:n.3442-20449_3442-20445del
NM_001198593.2:c.3442-20449_3442-20445del	NP_001185522.1:n.3442-20449_3442-20445del