Canonical Allele Identifier: CA1591565381
Gene: GLRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2080178227
gnomAD v4: 5-151823085-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151823086del , CM000667.2:g.151823086del GRCh38
NC_000005.9:g.151202647del , CM000667.1:g.151202647del GRCh37
NC_000005.8:g.151182840del NCBI36
NG_011764.1:g.106751del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1060-123del MANE Select ENSP00000274576.5:n.1060-123del
ENST00000274576.8:c.1060-123del ENSP00000274576.4:n.1060-123del
ENST00000455880.2:c.1060-99del ENSP00000411593.2:n.1060-99del
ENST00000462581.6:c.*818-123del ENSP00000430595.1:n.*818-123del
NM_000171.3:c.1060-123del NP_000162.2:n.1060-123del
NM_001146040.1:c.1060-99del NP_001139512.1:n.1060-99del
NM_001292000.1:c.811-123del NP_001278929.1:n.811-123del
NM_000171.4:c.1060-123del MANE Select NP_000162.2:n.1060-123del
NM_001146040.2:c.1060-99del NP_001139512.1:n.1060-99del
NM_001292000.2:c.811-123del NP_001278929.1:n.811-123del
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