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.102855240dup , CM000674.2:g.102855240dup	GRCh38
NC_000012.11:g.103249018dup , CM000674.1:g.103249018dup	GRCh37
NC_000012.10:g.101773148dup	NCBI36
NG_008690.1:g.67363dup
NG_008690.2:g.108171dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.602dup MANE Select	ENSP00000448059.1:p.His201GlnfsTer5
ENST00000307000.7:c.587dup	ENSP00000303500.2:p.His196GlnfsTer5
ENST00000549111.5:n.698dup
ENST00000553106.5:c.602dup	ENSP00000448059.1:p.His201GlnfsTer5
NM_000277.1:c.602dup	NP_000268.1:p.His201GlnfsTer5
XM_011538422.1:c.602dup	XP_011536724.1:p.His201GlnfsTer5
NM_000277.2:c.602dup	NP_000268.1:p.His201GlnfsTer5
NM_001354304.1:c.602dup	NP_001341233.1:p.His201GlnfsTer5
XM_017019370.2:c.602dup	XP_016874859.1:p.His201GlnfsTer5
NM_000277.3:c.602dup MANE Select	NP_000268.1:p.His201GlnfsTer5
NM_001354304.2:c.602dup	NP_001341233.1:p.His201GlnfsTer5