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_000005.10:g.1444346_1444349dup , CM000667.2:g.1444346_1444349dup	GRCh38
NC_000005.9:g.1444461_1444464dup , CM000667.1:g.1444461_1444464dup	GRCh37
NC_000005.8:g.1497461_1497464dup	NCBI36
NG_015885.1:g.6080_6083dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.-46+999_-46+1002dup MANE Select	ENSP00000270349.9:n.-46+999_-46+1002dup
ENST00000270349.11:c.-46+999_-46+1002dup	ENSP00000270349.9:n.-46+999_-46+1002dup
NM_001044.4:c.-46+999_-46+1002dup	NP_001035.1:n.-46+999_-46+1002dup
NM_001044.5:c.-46+999_-46+1002dup MANE Select	NP_001035.1:n.-46+999_-46+1002dup