×
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:
CA863493824
Gene: GALT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1275193684
MyVariant Identifiers:
chr9:g.34646610_34646612del (hg19)
chr9:g.34646613_34646615del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34646613_34646615del , CM000671.2:g.34646613_34646615del
GRCh38
NC_000009.11:g.34646610_34646612del , CM000671.1:g.34646610_34646612del
GRCh37
NC_000009.10:g.34636610_34636612del
NCBI36
NG_009029.1:g.4976_4978del
NG_009029.2:g.5025_5027del
Transcript Alleles
HGVS
Amino-acid change
ENST00000450095.6:c.-294_-292del
ENSP00000401956.2:n.-294_-292del
ENST00000605275.1:n.209-64_209-62del
NM_000155.3:c.-92_-90del
NP_000146.2:n.-92_-90del
NM_001258332.1:c.-294_-292del
NP_001245261.1:n.-294_-292del
Search 100 bp 5'
Search 100 bp 3'