Canonical Allele Identifier: CA992096069
Gene: GALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1912991691
gnomAD v3: 18-77268571-T-TCC
gnomAD v4: 18-77268571-T-TCC
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268571_77268572insCC , CM000680.2:g.77268571_77268572insCC GRCh38
NC_000018.9:g.74980527_74980528insCC , CM000680.1:g.74980527_74980528insCC GRCh37
NC_000018.8:g.73109515_73109516insCC NCBI36
NG_009223.1:g.23520_23521insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.733-14_733-13insCC MANE Select ENSP00000299727.3:n.733-14_733-13insCC
ENST00000299727.4:c.733-14_733-13insCC ENSP00000299727.3:n.733-14_733-13insCC
NM_001480.3:c.733-14_733-13insCC NP_001471.2:n.733-14_733-13insCC
NM_001480.4:c.733-14_733-13insCC MANE Select NP_001471.2:n.733-14_733-13insCC
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