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_000023.11:g.154956957_154956965del , CM000685.2:g.154956957_154956965del	GRCh38
NC_000023.10:g.154185232_154185240del , CM000685.1:g.154185232_154185240del	GRCh37
NC_000023.9:g.153838426_153838434del	NCBI36
NG_011403.1:g.70760_70768del
NG_011403.2:g.70760_70768del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.1745_1752+1del
ENST00000647125.1:c.1621_1628+1del
ENST00000360256.8:c.1745_1752+1del
NM_000132.3:c.1745_1752+1del
XM_011531126.1:c.1640_1647+1del
NM_000132.4:c.1745_1752+1del