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_000016.10:g.11309911_11309914delinsTGTG , CM000678.2:g.11309911_11309914delinsTGTG	GRCh38
NC_000016.9:g.11403768_11403771delinsTGTG , CM000678.1:g.11403768_11403771delinsTGTG	GRCh37
NC_000016.8:g.11311269_11311272delinsTGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649869.1:n.152+60133_152+60136delinsTGTG
ENST00000572173.1:c.-436-2918_-436-2915delinsTGTG	ENSP00000461206.1:n.-436-2918_-436-2915delinsTGTG
ENST00000573910.1:n.161-6541_161-6538delinsTGTG
XR_933070.1:n.733+60133_733+60136delinsTGTG
XR_933070.3:n.876+60133_876+60136delinsTGTG