Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107683455_107683472delinsCCCCA , CM000669.2:g.107683455_107683472delinsCCCCA	GRCh38
NC_000007.13:g.107323900_107323917delinsCCCCA , CM000669.1:g.107323900_107323917delinsCCCCA	GRCh37
NC_000007.12:g.107111136_107111153delinsCCCCA	NCBI36
NG_008489.1:g.27821_27838delinsCCCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.919_936delinsCCCCA MANE Select	ENSP00000494017.1:p.Thr307ProfsTer?
ENST00000265715.7:c.919_936delinsCCCCA	ENSP00000265715.3:p.Thr307ProfsTer?
NM_000441.1:c.919_936delinsCCCCA	NP_000432.1:p.Thr307ProfsTer?
XM_005250425.1:c.919_936delinsCCCCA	XP_005250482.1:p.Thr307ProfsTer?
XM_006716025.2:c.919_936delinsCCCCA	XP_006716088.1:p.Thr307ProfsTer?
XM_005250425.2:c.919_936delinsCCCCA	XP_005250482.1:p.Thr307ProfsTer?
XM_006716025.3:c.919_936delinsCCCCA	XP_006716088.1:p.Thr307ProfsTer?
XM_017012318.1:c.919_936delinsCCCCA	XP_016867807.1:p.Thr307ProfsTer?
NM_000441.2:c.919_936delinsCCCCA MANE Select	NP_000432.1:p.Thr307ProfsTer?