Canonical Allele Identifier: CA2589321042

Gene: EIF1AY

Linked Data

• gnomAD v3: Y-20583380-GAAAA-G
• gnomAD v4: Y-20583380-GAAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.20583390_20583393del , CM000686.2:g.20583390_20583393del	GRCh38
NC_000024.9:g.22745276_22745279del , CM000686.1:g.22745276_22745279del	GRCh37
NC_000024.8:g.21154664_21154667del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361365.7:c.204+697_204+700del MANE Select	ENSP00000354722.2:n.204+697_204+700del
ENST00000361365.6:c.204+697_204+700del	ENSP00000354722.2:n.204+697_204+700del
ENST00000382772.3:c.204+697_204+700del	ENSP00000372222.3:n.204+697_204+700del
ENST00000465253.1:n.298+697_298+700del
NM_001278612.1:c.204+697_204+700del	NP_001265541.1:n.204+697_204+700del
NM_004681.3:c.204+697_204+700del	NP_004672.2:n.204+697_204+700del
NM_004681.4:c.204+697_204+700del MANE Select	NP_004672.2:n.204+697_204+700del
NM_001278612.2:c.204+697_204+700del	NP_001265541.1:n.204+697_204+700del