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.7849099_7849115delinsAAGTACCGGAAAGAGGT , CM000668.2:g.7849099_7849115delinsAAGTACCGGAAAGAGGT	GRCh38
NC_000006.11:g.7849332_7849348delinsAAGTACCGGAAAGAGGT , CM000668.1:g.7849332_7849348delinsAAGTACCGGAAAGAGGT	GRCh37
NC_000006.10:g.7794331_7794347delinsAAGTACCGGAAAGAGGT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000283147.7:c.857+3767_857+3783delinsAAGTACCGGAAAGAGGT MANE Select	ENSP00000283147.6:n.857+3767_857+3783delinsAAGTACCGGAAAGAGGT
ENST00000283147.6:c.857+3767_857+3783delinsAAGTACCGGAAAGAGGT	ENSP00000283147.6:n.857+3767_857+3783delinsAAGTACCGGAAAGAGGT
NM_001718.4:c.857+3767_857+3783delinsAAGTACCGGAAAGAGGT	NP_001709.1:n.857+3767_857+3783delinsAAGTACCGGAAAGAGGT
NM_001718.5:c.857+3767_857+3783delinsAAGTACCGGAAAGAGGT	NP_001709.1:n.857+3767_857+3783delinsAAGTACCGGAAAGAGGT
NM_001718.6:c.857+3767_857+3783delinsAAGTACCGGAAAGAGGT MANE Select	NP_001709.1:n.857+3767_857+3783delinsAAGTACCGGAAAGAGGT