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_000021.9:g.39777453_39777454insCAGATAGTTGGTGACCCACAT , CM000683.2:g.39777453_39777454insCAGATAGTTGGTGACCCACAT	GRCh38
NC_000021.8:g.41149380_41149381insCAGATAGTTGGTGACCCACAT , CM000683.1:g.41149380_41149381insCAGATAGTTGGTGACCCACAT	GRCh37
NC_000021.7:g.40071250_40071251insCAGATAGTTGGTGACCCACAT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000380588.5:c.719-1637_719-1636insCAGATAGTTGGTGACCCACAT MANE Select	ENSP00000369962.4:n.719-1637_719-1636insC...
ENST00000380588.4:c.719-1637_719-1636insCAGATAGTTGGTGACCCACAT	ENSP00000369962.4:n.719-1637_719-1636insC...
ENST00000479378.1:n.825-1637_825-1636insCAGATAGTTGGTGACCCACAT
NM_001080444.1:c.719-1637_719-1636insCAGATAGTTGGTGACCCACAT	NP_001073913.1:n.719-1637_719-1636insCAGA...
XM_011529472.1:c.989-1637_989-1636insCAGATAGTTGGTGACCCACAT	XP_011527774.1:n.989-1637_989-1636insCAGA...
XM_011529473.1:c.989-1637_989-1636insCAGATAGTTGGTGACCCACAT	XP_011527775.1:n.989-1637_989-1636insCAGA...
XM_011529472.2:c.989-1637_989-1636insCAGATAGTTGGTGACCCACAT	XP_011527774.1:n.989-1637_989-1636insCAGA...
NM_001080444.2:c.719-1637_719-1636insCAGATAGTTGGTGACCCACAT MANE Select	NP_001073913.1:n.719-1637_719-1636insCAGA...