Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37155582_37155614delinsTCCTACCAGAATGTGGCAGAGCCAGGATTAGAA , CM000684.2:g.37155582_37155614delinsTCCTACCAGAATGTGGCAGAGCCAGGATTAGAA	GRCh38
NC_000022.10:g.37551622_37551654delinsTCCTACCAGAATGTGGCAGAGCCAGGATTAGAA , CM000684.1:g.37551622_37551654delinsTCCTACCAGAATGTGGCAGAGCCAGGATTAGAA	GRCh37
NC_000022.9:g.35881568_35881600delinsTCCTACCAGAATGTGGCAGAGCCAGGATTAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000429622.6:c.-33-11409_-33-11377delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	ENSP00000402685.2:n.-33-11409_-33-11377de...
ENST00000445595.2:c.-34+6179_-34+6211delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	ENSP00000401020.2:n.-34+6179_-34+6211deli...
ENST00000453962.6:c.-33-11409_-33-11377delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	ENSP00000403731.2:n.-33-11409_-33-11377de...
ENST00000698883.1:c.-34+661_-34+693delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	ENSP00000514005.1:n.-34+661_-34+693delins...
ENST00000698892.1:c.-34+661_-34+693delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	ENSP00000514011.1:n.-34+661_-34+693delins...
ENST00000698893.1:c.-34+661_-34+693delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	ENSP00000514012.1:n.-34+661_-34+693delins...
ENST00000429622.5:c.-33-11409_-33-11377delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	ENSP00000402685.1:n.-33-11409_-33-11377de...
ENST00000445595.1:c.-34+6179_-34+6211delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	ENSP00000401020.1:n.-34+6179_-34+6211deli...
ENST00000453962.5:c.-33-11409_-33-11377delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	ENSP00000403731.1:n.-33-11409_-33-11377de...
ENST00000461607.5:n.98-11409_98-11377delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA
NM_001346222.1:c.-33-11409_-33-11377delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	NP_001333151.1:n.-33-11409_-33-11377delin...
NM_001346223.1:c.-33-11409_-33-11377delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	NP_001333152.1:n.-33-11409_-33-11377delin...
NM_001346223.2:c.-33-11409_-33-11377delinsTTCTAATCCTGGCTCTGCCACATTCTGGTAGGA	NP_001333152.1:n.-33-11409_-33-11377delin...