Canonical Allele Identifier: CA2563473295
Gene: GLRA1 HGNC NCBI

Linked Data

gnomAD v4: 5-151822593-CCTTCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822598_151822602del , CM000667.2:g.151822598_151822602del GRCh38
NC_000005.9:g.151202159_151202163del , CM000667.1:g.151202159_151202163del GRCh37
NC_000005.8:g.151182352_151182356del NCBI36
NG_011764.1:g.107239_107243del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.*75_*79del MANE Select ENSP00000274576.5:n.*75_*79del
ENST00000274576.8:c.*75_*79del ENSP00000274576.4:n.*75_*79del
NM_000171.3:c.*75_*79del NP_000162.2:n.*75_*79del
NM_001146040.1:c.*75_*79del NP_001139512.1:n.*75_*79del
NM_001292000.1:c.*75_*79del NP_001278929.1:n.*75_*79del
NM_000171.4:c.*75_*79del MANE Select NP_000162.2:n.*75_*79del
NM_001146040.2:c.*75_*79del NP_001139512.1:n.*75_*79del
NM_001292000.2:c.*75_*79del NP_001278929.1:n.*75_*79del
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