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_000010.11:g.8047211_8047216delinsTGGGGA , CM000672.2:g.8047211_8047216delinsTGGGGA	GRCh38
NC_000010.10:g.8089174_8089179delinsTGGGGA , CM000672.1:g.8089174_8089179delinsTGGGGA	GRCh37
NC_000010.9:g.8129180_8129185delinsTGGGGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643001.1:c.-370+1696_-370+1701delinsTGGGGA	ENSP00000494284.1:n.-370+1696_-370+1701delinsTGGGGA
XM_005252443.3:c.-370+1696_-370+1701delinsTGGGGA	XP_005252500.1:n.-370+1696_-370+1701delinsTGGGGA
XM_011519800.1:c.213+172_213+177delinsTGGGGA	XP_011518102.1:n.213+172_213+177delinsTGGGGA
XM_005252443.5:c.-370+1696_-370+1701delinsTGGGGA	XP_005252500.1:n.-370+1696_-370+1701delinsTGGGGA