Canonical Allele Identifier: CA2642312196

Gene: GALR1

Linked Data

• gnomAD v4: 18-77268560-TCCTCCTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.77268561_77268568del , CM000680.2:g.77268561_77268568del	GRCh38
NC_000018.9:g.74980517_74980524del , CM000680.1:g.74980517_74980524del	GRCh37
NC_000018.8:g.73109505_73109512del	NCBI36
NG_009223.1:g.23510_23517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299727.5:c.733-24_733-17del MANE Select	ENSP00000299727.3:n.733-24_733-17del
ENST00000299727.4:c.733-24_733-17del	ENSP00000299727.3:n.733-24_733-17del
NM_001480.3:c.733-24_733-17del	NP_001471.2:n.733-24_733-17del
NM_001480.4:c.733-24_733-17del MANE Select	NP_001471.2:n.733-24_733-17del