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_000004.12:g.24795136_24795137insCATGAACTT , CM000666.2:g.24795136_24795137insCATGAACTT	GRCh38
NC_000004.11:g.24796758_24796759insCATGAACTT , CM000666.1:g.24796758_24796759insCATGAACTT	GRCh37
NC_000004.10:g.24405856_24405857insCATGAACTT	NCBI36
NG_012213.1:g.4674_4675insCATGAACTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000598411.1:c.-16-4370_-16-4369insCATGAACTT	ENSP00000472134.1:n.-16-4370_-16-4369insC...