Canonical Allele Identifier: CA9005944
Gene: GALR1 HGNC NCBI

Linked Data

dbSNP Id: rs71876994
ExAC: 18:74980498 GCCTCCT / G
gnomAD v2: 18-74980498-GCCTCCT-G
gnomAD v3: 18-77268542-GCCTCCT-G
gnomAD v4: 18-77268542-GCCTCCT-G
MyVariant Identifiers: chr18:g.74980502_74980507del (hg19) chr18:g.74980499_74980504del (hg19) chr18:g.77268543_77268548del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268565_77268570del , CM000680.2:g.77268565_77268570del GRCh38
NC_000018.9:g.74980521_74980526del , CM000680.1:g.74980521_74980526del GRCh37
NC_000018.8:g.73109509_73109514del NCBI36
NG_009223.1:g.23514_23519del

Transcript Alleles

HGVS Amino-acid change
ENST00000299727.5:c.733-20_733-15del MANE Select ENSP00000299727.3:n.733-20_733-15del
ENST00000299727.4:c.733-20_733-15del ENSP00000299727.3:n.733-20_733-15del
NM_001480.3:c.733-20_733-15del NP_001471.2:n.733-20_733-15del
NM_001480.4:c.733-20_733-15del MANE Select NP_001471.2:n.733-20_733-15del
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