×
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:
CA132640550
Gene: NSG2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1028793232
gnomAD v3:
5-174221507-CGTT-C
gnomAD v4:
5-174221507-CGTT-C
MyVariant Identifiers:
chr5:g.173648511_173648513del (hg19)
chr5:g.174221508_174221510del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.174221514_174221516del , CM000667.2:g.174221514_174221516del
GRCh38
NC_000005.9:g.173648517_173648519del , CM000667.1:g.173648517_173648519del
GRCh37
NC_000005.8:g.173581123_173581125del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000521585.5:c.*18+16210_*18+16212del
ENSP00000429863.1:n.*18+16210_*18+16212del
Search 100 bp 5'
Search 100 bp 3'