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_000019.10:g.41354211_41354213delinsGAA , CM000681.2:g.41354211_41354213delinsGAA	GRCh38
NC_000019.9:g.41860116_41860118delinsGAA , CM000681.1:g.41860116_41860118delinsGAA	GRCh37
NC_000019.8:g.46551956_46551958delinsGAA	NCBI36
NG_013091.1:g.14961_14963delinsTTC
NG_013364.1:g.4714_4716delinsTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000539627.5:c.-30+3009_-30+3011delinsGAA	ENSP00000441900.1:n.-30+3009_-30+3011delinsGAA
ENST00000604123.5:c.38_40delinsGAA	ENSP00000474871.1:p.Arg13=
ENST00000604424.1:n.350+3009_350+3011delinsGAA