Canonical Allele Identifier: CA9005937
Gene: GALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1555673300
ExAC: 18:74980495 A / ACTG
gnomAD v2: 18-74980495-A-ACTG
gnomAD v3: 18-77268539-A-ACTG
gnomAD v4: 18-77268539-A-ACTG
MyVariant Identifiers: chr18:g.74980497_74980504delinsTGCCGCCTCCT (hg19) chr18:g.74980495_74980496insCTG (hg19) chr18:g.77268539_77268540insCTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268540_77268541insTGC , CM000680.2:g.77268540_77268541insTGC GRCh38
NC_000018.9:g.74980496_74980497insTGC , CM000680.1:g.74980496_74980497insTGC GRCh37
NC_000018.8:g.73109484_73109485insTGC NCBI36
NG_009223.1:g.23489_23490insTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.733-45_733-44insTGC MANE Select ENSP00000299727.3:n.733-45_733-44insTGC
ENST00000299727.4:c.733-45_733-44insTGC ENSP00000299727.3:n.733-45_733-44insTGC
NM_001480.3:c.733-45_733-44insTGC NP_001471.2:n.733-45_733-44insTGC
NM_001480.4:c.733-45_733-44insTGC MANE Select NP_001471.2:n.733-45_733-44insTGC
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