×
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:
CA1522655484
Gene: SLC6A3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1733748526
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1444282_1444290del , CM000667.2:g.1444282_1444290del
GRCh38
NC_000005.9:g.1444397_1444405del , CM000667.1:g.1444397_1444405del
GRCh37
NC_000005.8:g.1497397_1497405del
NCBI36
NG_015885.1:g.6141_6149del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270349.12:c.-45-1046_-45-1038del
MANE Select
ENSP00000270349.9:n.-45-1046_-45-1038del
ENST00000270349.11:c.-45-1046_-45-1038del
ENSP00000270349.9:n.-45-1046_-45-1038del
NM_001044.4:c.-45-1046_-45-1038del
NP_001035.1:n.-45-1046_-45-1038del
NM_001044.5:c.-45-1046_-45-1038del
MANE Select
NP_001035.1:n.-45-1046_-45-1038del
Search 100 bp 5'
Search 100 bp 3'