Canonical Allele Identifier: CA2766255226
Gene: EIF1AY HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20579797_20579803del , CM000686.2:g.20579797_20579803del GRCh38
NC_000024.9:g.22741683_22741689del , CM000686.1:g.22741683_22741689del GRCh37
NC_000024.8:g.21151071_21151077del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361365.7:c.100+106_100+112del MANE Select ENSP00000354722.2:n.100+106_100+112del
ENST00000361365.6:c.100+106_100+112del ENSP00000354722.2:n.100+106_100+112del
ENST00000382772.3:c.100+106_100+112del ENSP00000372222.3:n.100+106_100+112del
ENST00000465253.1:n.194+106_194+112del
NM_001278612.1:c.100+106_100+112del NP_001265541.1:n.100+106_100+112del
NM_004681.3:c.100+106_100+112del NP_004672.2:n.100+106_100+112del
NM_004681.4:c.100+106_100+112del MANE Select NP_004672.2:n.100+106_100+112del
NM_001278612.2:c.100+106_100+112del NP_001265541.1:n.100+106_100+112del
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