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_000007.14:g.128849208_128849333del , CM000669.2:g.128849208_128849333del	GRCh38
NC_000007.13:g.128489262_128489387del , CM000669.1:g.128489262_128489387del	GRCh37
NC_000007.12:g.128276498_128276623del	NCBI36
NG_011807.1:g.23780_23905del , LRG_870:g.23780_23905del

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.4951+4_4954del
ENST00000325888.12:c.4951+4_4954del
ENST00000346177.6:c.4951+4_4954del
NM_001127487.1:c.4951+4_4954del
NM_001458.4:c.4951+4_4954del , LRG_870t1:c.4951+4_4954del
NM_001127487.2:c.4951+4_4954del
NM_001458.5:c.4951+4_4954del