Canonical Allele Identifier: CA923822164

Gene: EIF1AY

Linked Data

• dbSNP Id: rs2089352509
• gnomAD v3: Y-20583432-GT-G
• gnomAD v4: Y-20583432-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.20583433del , CM000686.2:g.20583433del	GRCh38
NC_000024.9:g.22745319del , CM000686.1:g.22745319del	GRCh37
NC_000024.8:g.21154707del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361365.7:c.204+740del MANE Select	ENSP00000354722.2:n.204+740del
ENST00000361365.6:c.204+740del	ENSP00000354722.2:n.204+740del
ENST00000382772.3:c.204+740del	ENSP00000372222.3:n.204+740del
ENST00000465253.1:n.298+740del
NM_001278612.1:c.204+740del	NP_001265541.1:n.204+740del
NM_004681.3:c.204+740del	NP_004672.2:n.204+740del
NM_004681.4:c.204+740del MANE Select	NP_004672.2:n.204+740del
NM_001278612.2:c.204+740del	NP_001265541.1:n.204+740del