Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603635del , CM000678.2:g.23603635del	GRCh38
NC_000016.9:g.23614956del , CM000678.1:g.23614956del	GRCh37
NC_000016.8:g.23522457del	NCBI36
NG_007406.1:g.42723del , LRG_308:g.42723del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3391del	ENSP00000460666.3:p.Ala1131GlnfsTer4
ENST00000565038.2:c.*870del	ENSP00000459882.2:n.*870del
ENST00000566069.6:c.*20del	ENSP00000459237.2:n.*20del
ENST00000697377.2:c.3229del	ENSP00000513286.2:p.Ala1077GlnfsTer4
ENST00000697379.2:c.3391del	ENSP00000513287.2:p.Ala1131GlnfsTer4
ENST00000561514.2:c.2500del	ENSP00000460666.2:p.Ala834GlnfsTer4
ENST00000697374.1:c.2500del	ENSP00000513284.1:p.Ala834GlnfsTer4
ENST00000697375.1:n.4732del
ENST00000697376.1:c.*20del	ENSP00000513285.1:n.*20del
ENST00000697377.1:c.2338del	ENSP00000513286.1:p.Ala780GlnfsTer4
ENST00000697378.1:n.3905del
ENST00000697379.1:c.2500del	ENSP00000513287.1:p.Ala834GlnfsTer4
ENST00000697380.1:n.2589del
ENST00000697381.1:n.2080del
ENST00000697382.1:c.*162del	ENSP00000513288.1:n.*162del
ENST00000697383.1:c.919del	ENSP00000513289.1:p.Ala307GlnfsTer4
ENST00000261584.9:c.3385del MANE Select	ENSP00000261584.4:p.Ala1129GlnfsTer4
ENST00000261584.8:c.3385del	ENSP00000261584.4:p.Ala1129GlnfsTer4
ENST00000566069.5:c.151del
ENST00000568219.5:c.2500del	ENSP00000454703.2:p.Ala834GlnfsTer4
NM_024675.3:c.3385del , LRG_308t1:c.3385del	NP_078951.2:p.Ala1129GlnfsTer4
XM_011545946.1:c.3391del	XP_011544248.1:p.Ala1131GlnfsTer4
XM_011545947.1:c.*20del	XP_011544249.1:n.*20del
XM_011545948.1:c.2500del	XP_011544250.1:p.Ala834GlnfsTer4
XR_950851.1:n.4093del
XM_011545946.2:c.3391del	XP_011544248.1:p.Ala1131GlnfsTer4
XM_011545947.2:c.*20del	XP_011544249.1:n.*20del
XM_011545948.2:c.2500del	XP_011544250.1:p.Ala834GlnfsTer4
XM_017023671.1:c.3154del	XP_016879160.1:p.Ala1052GlnfsTer4
XM_017023672.2:c.3148del	XP_016879161.1:p.Ala1050GlnfsTer4
XM_017023673.2:c.*20del	XP_016879162.1:n.*20del
NM_024675.4:c.3385del MANE Select	NP_078951.2:p.Ala1129GlnfsTer4