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_000006.12:g.32634366_32634367insCCCCCCCCCCCCCCCCCCCCCCC , CM000668.2:g.32634366_32634367insCCCCCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000006.11:g.32602143_32602144insCCCCCCCCCCCCCCCCCCCCCCC , CM000668.1:g.32602143_32602144insCCCCCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000006.10:g.32710121_32710122insCCCCCCCCCCCCCCCCCCCCCCC	NCBI36
NG_032876.1:g.1961_1962insCCCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000422863.1:c.-39+1457_-39+1458insCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000405797.1:n.-39+1457_-39+1458insCCCCCCCCCCCCCCCCCCCCC...