Allele Registry

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.

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128842781_128842808delinsCGCTTCTCTGCAGGCGACGTGAGCATCG , CM000669.2:g.128842781_128842808delinsCGCTTCTCTGCAGGCGACGTGAGCATCG	GRCh38
NC_000007.13:g.128482835_128482862delinsCGCTTCTCTGCAGGCGACGTGAGCATCG , CM000669.1:g.128482835_128482862delinsCGCTTCTCTGCAGGCGACGTGAGCATCG	GRCh37
NC_000007.12:g.128270071_128270098delinsCGCTTCTCTGCAGGCGACGTGAGCATCG	NCBI36
NG_011807.1:g.17353_17380delinsCGCTTCTCTGCAGGCGACGTGAGCATCG , LRG_870:g.17353_17380delinsCGCTTCTCTGCAGGCGACGTGAGCATCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.2390-13_2404delinsCGCTTCTCTGCAGGCGACGTGAGCATCG
ENST00000325888.12:c.2390-13_2404delinsCGCTTCTCTGCAGGCGACGTGAGCATCG
ENST00000346177.6:c.2390-13_2404delinsCGCTTCTCTGCAGGCGACGTGAGCATCG
ENST00000388853.3:n.506-13_520delinsCGCTTCTCTGCAGGCGACGTGAGCATCG
NM_001127487.1:c.2390-13_2404delinsCGCTTCTCTGCAGGCGACGTGAGCATCG
NM_001458.4:c.2390-13_2404delinsCGCTTCTCTGCAGGCGACGTGAGCATCG , LRG_870t1:c.2390-13_2404delinsCGCTTCTCTGCAGGCGACGTGAGCATCG
NM_001127487.2:c.2390-13_2404delinsCGCTTCTCTGCAGGCGACGTGAGCATCG
NM_001458.5:c.2390-13_2404delinsCGCTTCTCTGCAGGCGACGTGAGCATCG