×
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:
CA2494534971
Gene: SIX3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.44942221_44942224delinsAGGC , CM000664.2:g.44942221_44942224delinsAGGC
GRCh38
NC_000002.11:g.45169360_45169363delinsAGGC , CM000664.1:g.45169360_45169363delinsAGGC
GRCh37
NC_000002.10:g.45022864_45022867delinsAGGC
NCBI36
NG_016222.1:g.5324_5327delinsAGGC
Transcript Alleles
HGVS
Amino-acid change
ENST00000260653.5:c.117_120delinsAGGC
MANE Select
ENSP00000260653.3:p.Gly39=
ENST00000260653.4:c.117_120delinsAGGC
ENSP00000260653.3:p.Gly39=
NM_005413.3:c.117_120delinsAGGC
NP_005404.1:p.Gly39=
XM_011533042.1:c.117_120delinsAGGC
XP_011531344.1:p.Gly39=
NM_005413.4:c.117_120delinsAGGC
MANE Select
NP_005404.1:p.Gly39=
Search 100 bp 5'
Search 100 bp 3'