Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089167_66089170del , CM000669.2:g.66089167_66089170del	GRCh38
NC_000007.13:g.65554154_65554157del , CM000669.1:g.65554154_65554157del	GRCh37
NC_000007.12:g.65191589_65191592del	NCBI36
NG_009288.1:g.18379_18382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.910_913del MANE Select	ENSP00000307188.9:p.Phe304GlyfsTer7
ENST00000362000.10:c.715_718del	ENSP00000354710.6:p.Phe239GlyfsTer7
ENST00000380839.9:c.832_835del	ENSP00000370219.4:p.Phe278GlyfsTer7
ENST00000395331.4:c.910_913del	ENSP00000378740.3:p.Phe304GlyfsTer15
ENST00000395332.8:c.910_913del	ENSP00000378741.3:p.Phe304GlyfsTer7
ENST00000488343.2:c.79_82del	ENSP00000500864.1:p.Phe27GlyfsTer7
ENST00000671817.1:c.832_835del	ENSP00000500462.1:p.Phe278GlyfsTer7
ENST00000672498.1:c.209_212del	ENSP00000500227.1:n.209_212del
ENST00000672586.1:n.1669_1672del
ENST00000672676.1:n.1934_1937del
ENST00000673149.1:n.722_725del
ENST00000673350.1:n.3027_3030del
ENST00000673518.1:c.832_835del	ENSP00000499889.1:p.Phe278GlyfsTer7
ENST00000304874.13:c.910_913del	ENSP00000307188.9:p.Phe304GlyfsTer7
ENST00000362000.9:c.715_718del	ENSP00000354710.5:p.Phe239GlyfsTer?
ENST00000380839.8:c.832_835del	ENSP00000370219.4:p.Phe278GlyfsTer7
ENST00000395331.3:c.910_913del	ENSP00000378740.3:p.Phe304GlyfsTer15
ENST00000395332.7:c.910_913del	ENSP00000378741.3:p.Phe304GlyfsTer7
ENST00000450043.2:c.223_226del	ENSP00000396527.2:p.Phe75GlyfsTer7
ENST00000488343.1:n.79_82del
ENST00000493708.5:n.291_294del
NM_000048.3:c.910_913del	NP_000039.2:p.Phe304GlyfsTer7
NM_001024943.1:c.910_913del	NP_001020114.1:p.Phe304GlyfsTer7
NM_001024944.1:c.910_913del	NP_001020115.1:p.Phe304GlyfsTer15
NM_001024946.1:c.832_835del	NP_001020117.1:p.Phe278GlyfsTer7
NM_000048.4:c.910_913del MANE Select	NP_000039.2:p.Phe304GlyfsTer7
NM_001024943.2:c.910_913del	NP_001020114.1:p.Phe304GlyfsTer7
NM_001024944.2:c.910_913del	NP_001020115.1:p.Phe304GlyfsTer15
NM_001024946.2:c.832_835del	NP_001020117.1:p.Phe278GlyfsTer7