×
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:
CA1732757159
Gene: SLC26A4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1792375443
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.107717419_107717426dup , CM000669.2:g.107717419_107717426dup
GRCh38
NC_000007.13:g.107357864_107357871dup , CM000669.1:g.107357864_107357871dup
GRCh37
NC_000007.12:g.107145100_107145107dup
NCBI36
NG_008489.1:g.61785_61792dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000644269.2:c.*1973_*1980dup
MANE Select
ENSP00000494017.1:n.*1973_*1980dup
ENST00000265715.7:c.*1973_*1980dup
ENSP00000265715.3:n.*1973_*1980dup
NM_000441.1:c.*1973_*1980dup
NP_000432.1:n.*1973_*1980dup
NM_000441.2:c.*1973_*1980dup
MANE Select
NP_000432.1:n.*1973_*1980dup
Search 100 bp 5'
Search 100 bp 3'