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.155461382_155461385delinsCCTT , CM000669.2:g.155461382_155461385delinsCCTT	GRCh38
NC_000007.13:g.155254077_155254080delinsCCTT , CM000669.1:g.155254077_155254080delinsCCTT	GRCh37
NC_000007.12:g.154946838_154946841delinsCCTT	NCBI36
NG_007124.1:g.9663_9666delinsCCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000297375.4:c.686-989_686-986delinsCCTT MANE Select	ENSP00000297375.4:n.686-989_686-986delins...
NM_001427.3:c.686-989_686-986delinsCCTT	NP_001418.2:n.686-989_686-986delinsCCTT
NM_001427.4:c.686-989_686-986delinsCCTT MANE Select	NP_001418.2:n.686-989_686-986delinsCCTT