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_000019.10:g.50871678_50871679delinsAT , CM000681.2:g.50871678_50871679delinsAT	GRCh38
NC_000019.9:g.51374934_51374935delinsAT , CM000681.1:g.51374934_51374935delinsAT	GRCh37
NC_000019.8:g.56066746_56066747delinsAT	NCBI36
NG_031984.1:g.3246_3247delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593493.5:c.-332-1505_-332-1504delinsAT (KLK2)	ENSP00000472852.1:n.-332-1505_-332-1504delinsAT
ENST00000595375.5:n.149+929_149+930delinsAT (KLK2)
ENST00000596950.5:n.113+821_113+822delinsAT (KLK2)
ENST00000597509.5:n.243+821_243+822delinsAT (KLK2)
XR_935817.1:n.1325-6003_1325-6002delinsAT (KLK3)