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.44189478_44189485delinsGGGCCTGT , CM000669.2:g.44189478_44189485delinsGGGCCTGT	GRCh38
NC_000007.13:g.44229077_44229084delinsGGGCCTGT , CM000669.1:g.44229077_44229084delinsGGGCCTGT	GRCh37
NC_000007.12:g.44195602_44195609delinsGGGCCTGT	NCBI36
NG_008847.1:g.4939_4946delinsACAGGCCC
NG_008847.2:g.13686_13693delinsACAGGCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000476008.1:n.480+8206_480+8213delinsACAGGCCC