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_000012.12:g.91107307_91107337delinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG , CM000674.2:g.91107307_91107337delinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRCh38
NC_000012.11:g.91501084_91501114delinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG , CM000674.1:g.91501084_91501114delinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRCh37
NC_000012.10:g.90025215_90025245delinsAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266718.5:c.862+781_862+811delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT MANE Select	ENSP00000266718.4:n.862+781_862+811delinsCTTTCTTTCTTTCTTTCTTT...
ENST00000266718.4:c.862+781_862+811delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ENSP00000266718.4:n.862+781_862+811delinsCTTTCTTTCTTTCTTTCTTT...
ENST00000546642.1:n.612+781_612+811delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT
ENST00000548071.1:n.255+781_255+811delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT
NM_002345.3:c.862+781_862+811delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	NP_002336.1:n.862+781_862+811delinsCTTTCTTTCTTTCTTTCTTTCTTTCT...
NM_002345.4:c.862+781_862+811delinsCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT MANE Select	NP_002336.1:n.862+781_862+811delinsCTTTCTTTCTTTCTTTCTTTCTTTCT...