Canonical Allele Identifier: CA2315413098
Gene: GALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1912990802
gnomAD v4: 18-77268555-C-CCTT
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268557_77268558insTCT , CM000680.2:g.77268557_77268558insTCT GRCh38
NC_000018.9:g.74980513_74980514insTCT , CM000680.1:g.74980513_74980514insTCT GRCh37
NC_000018.8:g.73109501_73109502insTCT NCBI36
NG_009223.1:g.23506_23507insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.733-28_733-27insTCT MANE Select ENSP00000299727.3:n.733-28_733-27insTCT
ENST00000299727.4:c.733-28_733-27insTCT ENSP00000299727.3:n.733-28_733-27insTCT
NM_001480.3:c.733-28_733-27insTCT NP_001471.2:n.733-28_733-27insTCT
NM_001480.4:c.733-28_733-27insTCT MANE Select NP_001471.2:n.733-28_733-27insTCT
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