Canonical Allele Identifier: CA2578460328
Gene: GLRA1 HGNC NCBI

Linked Data

gnomAD v4: 5-151822973-ATT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822974_151822975del , CM000667.2:g.151822974_151822975del GRCh38
NC_000005.9:g.151202535_151202536del , CM000667.1:g.151202535_151202536del GRCh37
NC_000005.8:g.151182728_151182729del NCBI36
NG_011764.1:g.106862_106863del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1060-12_1060-11del MANE Select ENSP00000274576.5:n.1060-12_1060-11del
ENST00000274576.8:c.1060-12_1060-11del ENSP00000274576.4:n.1060-12_1060-11del
ENST00000455880.2:c.1072_1073del ENSP00000411593.2:p.Asn358SerfsTer6
ENST00000462581.6:c.*818-12_*818-11del ENSP00000430595.1:n.*818-12_*818-11del
NM_000171.3:c.1060-12_1060-11del NP_000162.2:n.1060-12_1060-11del
NM_001146040.1:c.1072_1073del NP_001139512.1:p.Asn358SerfsTer6
NM_001292000.1:c.811-12_811-11del NP_001278929.1:n.811-12_811-11del
NM_000171.4:c.1060-12_1060-11del MANE Select NP_000162.2:n.1060-12_1060-11del
NM_001146040.2:c.1072_1073del NP_001139512.1:p.Asn358SerfsTer6
NM_001292000.2:c.811-12_811-11del NP_001278929.1:n.811-12_811-11del
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