Canonical Allele Identifier: CA2315413115
Gene: GALR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268589_77268593delinsCACAG , CM000680.2:g.77268589_77268593delinsCACAG GRCh38
NC_000018.9:g.74980545_74980549delinsCACAG , CM000680.1:g.74980545_74980549delinsCACAG GRCh37
NC_000018.8:g.73109533_73109537delinsCACAG NCBI36
NG_009223.1:g.23538_23542delinsCACAG

Transcript Alleles

HGVS Amino-acid change
ENST00000299727.5:c.737_741delinsCACAG MANE Select ENSP00000299727.3:p.Ala246=
ENST00000299727.4:c.737_741delinsCACAG ENSP00000299727.3:p.Ala246=
NM_001480.3:c.737_741delinsCACAG NP_001471.2:p.Ala246=
NM_001480.4:c.737_741delinsCACAG MANE Select NP_001471.2:p.Ala246=
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