Canonical Allele Identifier: CA923824709

Gene: EIF1AY

Linked Data

• dbSNP Id: rs2089356781
• gnomAD v3: Y-20588974-T-TTTA
• gnomAD v4: Y-20588974-T-TTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.20588976_20588978dup , CM000686.2:g.20588976_20588978dup	GRCh38
NC_000024.9:g.22750862_22750864dup , CM000686.1:g.22750862_22750864dup	GRCh37
NC_000024.8:g.21160250_21160252dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361365.7:c.338-508_338-506dup MANE Select	ENSP00000354722.2:n.338-508_338-506dup
ENST00000361365.6:c.338-508_338-506dup	ENSP00000354722.2:n.338-508_338-506dup
ENST00000382772.3:c.287-508_287-506dup	ENSP00000372222.3:n.287-508_287-506dup
ENST00000464196.5:n.2259_2261dup
ENST00000485584.1:n.260-508_260-506dup
NM_001278612.1:c.287-508_287-506dup	NP_001265541.1:n.287-508_287-506dup
NM_004681.3:c.338-508_338-506dup	NP_004672.2:n.338-508_338-506dup
NM_004681.4:c.338-508_338-506dup MANE Select	NP_004672.2:n.338-508_338-506dup
NM_001278612.2:c.287-508_287-506dup	NP_001265541.1:n.287-508_287-506dup