Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150598589_150598592del , CM000685.2:g.150598589_150598592del	GRCh38
NC_000023.10:g.149767053_149767056del , CM000685.1:g.149767053_149767056del	GRCh37
NC_000023.9:g.149517711_149517714del	NCBI36
NG_008199.1:g.35007_35010del , LRG_839:g.35007_35010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.136+2019_136+2022del	ENSP00000509844.1:n.136+2019_136+2022del
ENST00000685439.1:c.-3-20449_-3-20446del	ENSP00000508454.1:n.-3-20449_-3-20446del
ENST00000685944.1:c.137-3_137del
ENST00000687215.1:c.-149-3_-149del
ENST00000687365.1:n.192-3_192del
ENST00000688152.1:c.137-3_137del
ENST00000688403.1:c.-301+29727_-301+29730del	ENSP00000508944.1:n.-301+29727_-301+29730del
ENST00000689314.1:c.137-3_137del
ENST00000689694.1:c.137-3_137del
ENST00000689810.1:c.137-3_137del
ENST00000690282.1:c.-301+29871_-301+29874del	ENSP00000509809.1:n.-301+29871_-301+29874del
ENST00000690351.1:c.136+2019_136+2022del	ENSP00000509728.1:n.136+2019_136+2022del
ENST00000691232.1:c.-3-20449_-3-20446del	ENSP00000509675.1:n.-3-20449_-3-20446del
ENST00000691686.1:c.137-3_137del
ENST00000691851.1:c.137-3_137del
ENST00000692015.1:c.137-3_137del
ENST00000692638.1:c.136+2019_136+2022del	ENSP00000509412.1:n.136+2019_136+2022del
ENST00000692852.1:c.137-3_137del
ENST00000692915.1:c.137-3_137del
ENST00000693422.1:n.198-3_198del
ENST00000370396.7:c.137-3_137del
ENST00000306167.11:n.176-3_176del
ENST00000370396.6:c.137-3_137del
ENST00000424519.1:c.137-3_137del
ENST00000490530.1:n.170+2019_170+2022del
NM_000252.2:c.137-3_137del , LRG_839t1:c.137-3_137del
XM_005274687.2:c.137-3_137del
XM_011531170.1:c.158-3_158del
XM_011531171.1:c.137-3_137del
XM_011531172.1:c.137-3_137del
XM_011531173.1:c.137-3_137del
XM_011531173.2:c.137-3_137del
XM_017029547.1:c.137-3_137del
XM_017029548.1:c.137-3_137del
XM_017029549.1:c.137-3_137del
XM_017029550.1:c.137-3_137del
NM_000252.3:c.137-3_137del
NM_001376906.1:c.137-3_137del
NM_001376907.1:c.137-3_137del
NM_001376908.1:c.137-3_137del