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_000012.12:g.21215611_21215621delinsGCATCTATATT , CM000674.2:g.21215611_21215621delinsGCATCTATATT	GRCh38
NC_000012.11:g.21368545_21368555delinsGCATCTATATT , CM000674.1:g.21368545_21368555delinsGCATCTATATT	GRCh37
NC_000012.10:g.21259812_21259822delinsGCATCTATATT	NCBI36
NG_011745.1:g.89418_89428delinsGCATCTATATT , LRG_1022:g.89418_89428delinsGCATCTATATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000256958.3:c.1498-1508_1498-1498delinsGCATCTATATT MANE Select	ENSP00000256958.2:n.1498-1508_1498-1498de...
ENST00000256958.2:c.1498-1508_1498-1498delinsGCATCTATATT	ENSP00000256958.2:n.1498-1508_1498-1498de...
NM_006446.4:c.1498-1508_1498-1498delinsGCATCTATATT , LRG_1022t1:c.1498-1508_1498-1498delinsGCATCTATATT	NP_006437.3:n.1498-1508_1498-1498delinsGC...
NM_006446.5:c.1498-1508_1498-1498delinsGCATCTATATT MANE Select	NP_006437.3:n.1498-1508_1498-1498delinsGC...