Canonical Allele Identifier: CA9005938

Gene: GALR1

Linked Data

• dbSNP Id: rs775916814
• ExAC: 18:74980495 ACCGCCTCCT / A
• gnomAD v2: 18-74980495-ACCGCCTCCT-A
• gnomAD v4: 18-77268539-ACCGCCTCCT-A
• MyVariant Identifiers: chr18:g.74980496_74980504del (hg19) ; chr18:g.77268540_77268548del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.77268542_77268550del , CM000680.2:g.77268542_77268550del	GRCh38
NC_000018.9:g.74980498_74980506del , CM000680.1:g.74980498_74980506del	GRCh37
NC_000018.8:g.73109486_73109494del	NCBI36
NG_009223.1:g.23491_23499del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299727.5:c.733-43_733-35del MANE Select	ENSP00000299727.3:n.733-43_733-35del
ENST00000299727.4:c.733-43_733-35del	ENSP00000299727.3:n.733-43_733-35del
NM_001480.3:c.733-43_733-35del	NP_001471.2:n.733-43_733-35del
NM_001480.4:c.733-43_733-35del MANE Select	NP_001471.2:n.733-43_733-35del