×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2576530737
Gene: GALR1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77268562_77268563insACC , CM000680.2:g.77268562_77268563insACC
GRCh38
NC_000018.9:g.74980518_74980519insACC , CM000680.1:g.74980518_74980519insACC
GRCh37
NC_000018.8:g.73109506_73109507insACC
NCBI36
NG_009223.1:g.23511_23512insACC
Transcript Alleles
HGVS
Amino-acid change
ENST00000299727.5:c.733-23_733-22insACC
MANE Select
ENSP00000299727.3:n.733-23_733-22insACC
ENST00000299727.4:c.733-23_733-22insACC
ENSP00000299727.3:n.733-23_733-22insACC
NM_001480.3:c.733-23_733-22insACC
NP_001471.2:n.733-23_733-22insACC
NM_001480.4:c.733-23_733-22insACC
MANE Select
NP_001471.2:n.733-23_733-22insACC
Search 100 bp 5'
Search 100 bp 3'