Canonical Allele Identifier: CA2294597
Gene: GADL1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30844162del
GRCh37 chr3:g.30885654del
gnomAD v2:
3:30885653 GC / G
gnomAD v3:
3:30844161 GC / G
gnomAD v4:
chr3-30844161-GC-G
Joint Max Group AF 0.21993296 (EAS)
Genomes Max Group AF 0.24235517 (EAS)
Exomes Max Group AF 0.21572736 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30844162del , CM000665.2:g.30844162del GRCh38
NC_000003.11:g.30885654del , CM000665.1:g.30885654del GRCh37
NC_000003.10:g.30860658del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000282538.10:c.786+48del MANE Select ENSP00000282538.5:n.786+48del
ENST00000282538.9:c.786+48del ENSP00000282538.5:n.786+48del
ENST00000454381.3:c.786+48del ENSP00000427059.1:n.786+48del
NM_207359.2:c.786+48del NP_997242.2:n.786+48del
XM_017006297.1:c.729+48del XP_016861786.1:n.729+48del
XM_017006298.1:c.48+48del XP_016861787.1:n.48+48del
NM_207359.3:c.786+48del MANE Select NP_997242.2:n.786+48del
Search 100 bp 5'
Search 100 bp 3'