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.107646707_107646708delinsCT , CM000667.2:g.107646707_107646708delinsCT	GRCh38
NC_000005.9:g.106982408_106982409delinsCT , CM000667.1:g.106982408_106982409delinsCT	GRCh37
NC_000005.8:g.107010307_107010308delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000333274.11:c.125+23781_125+23782delinsAG MANE Select	ENSP00000328777.6:n.125+23781_125+23782de...
ENST00000333274.10:c.125+23781_125+23782delinsAG	ENSP00000328777.6:n.125+23781_125+23782de...
ENST00000504941.1:n.397+23781_397+23782delinsAG
ENST00000509503.1:c.125+23781_125+23782delinsAG	ENSP00000426989.1:n.125+23781_125+23782de...
NM_001962.2:c.125+23781_125+23782delinsAG	NP_001953.1:n.125+23781_125+23782delinsAG...
XM_006714565.1:c.125+23781_125+23782delinsAG	XP_006714628.1:n.125+23781_125+23782delin...
XM_006714565.3:c.125+23781_125+23782delinsAG	XP_006714628.1:n.125+23781_125+23782delin...
NM_001962.3:c.125+23781_125+23782delinsAG MANE Select	NP_001953.1:n.125+23781_125+23782delinsAG...