Canonical Allele Identifier: CA2560853633
Gene: EIF1AY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20583391_20583393dup , CM000686.2:g.20583391_20583393dup GRCh38
NC_000024.9:g.22745277_22745279dup , CM000686.1:g.22745277_22745279dup GRCh37
NC_000024.8:g.21154665_21154667dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361365.7:c.204+698_204+700dup MANE Select ENSP00000354722.2:n.204+698_204+700dup
ENST00000361365.6:c.204+698_204+700dup ENSP00000354722.2:n.204+698_204+700dup
ENST00000382772.3:c.204+698_204+700dup ENSP00000372222.3:n.204+698_204+700dup
ENST00000465253.1:n.298+698_298+700dup
NM_001278612.1:c.204+698_204+700dup NP_001265541.1:n.204+698_204+700dup
NM_004681.3:c.204+698_204+700dup NP_004672.2:n.204+698_204+700dup
NM_004681.4:c.204+698_204+700dup MANE Select NP_004672.2:n.204+698_204+700dup
NM_001278612.2:c.204+698_204+700dup NP_001265541.1:n.204+698_204+700dup