Canonical Allele Identifier: CA2572665647
Gene: EIF1AY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20583392_20583393del , CM000686.2:g.20583392_20583393del GRCh38
NC_000024.9:g.22745278_22745279del , CM000686.1:g.22745278_22745279del GRCh37
NC_000024.8:g.21154666_21154667del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361365.7:c.204+699_204+700del MANE Select ENSP00000354722.2:n.204+699_204+700del
ENST00000361365.6:c.204+699_204+700del ENSP00000354722.2:n.204+699_204+700del
ENST00000382772.3:c.204+699_204+700del ENSP00000372222.3:n.204+699_204+700del
ENST00000465253.1:n.298+699_298+700del
NM_001278612.1:c.204+699_204+700del NP_001265541.1:n.204+699_204+700del
NM_004681.3:c.204+699_204+700del NP_004672.2:n.204+699_204+700del
NM_004681.4:c.204+699_204+700del MANE Select NP_004672.2:n.204+699_204+700del
NM_001278612.2:c.204+699_204+700del NP_001265541.1:n.204+699_204+700del