Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516659_75516661del , CM000679.2:g.75516659_75516661del	GRCh38
NC_000017.10:g.73512740_73512742del , CM000679.1:g.73512740_73512742del	GRCh37
NC_000017.9:g.71024335_71024337del	NCBI36
NG_013041.1:g.5132_5134del
NG_033152.1:g.3923_3925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.56+43_56+45del MANE Select	ENSP00000327487.6:n.56+43_56+45del
ENST00000434205.8:c.-83+273_-83+275del	ENSP00000406559.4:n.-83+273_-83+275del
ENST00000545228.3:c.56+43_56+45del	ENSP00000438169.3:n.56+43_56+45del
ENST00000579449.2:n.20+43_20+45del
ENST00000580013.6:n.65+43_65+45del
ENST00000583818.2:c.56+43_56+45del	ENSP00000461928.2:n.56+43_56+45del
ENST00000679370.1:n.444-87_444-85del
ENST00000679429.1:c.56+43_56+45del	ENSP00000505403.1:n.56+43_56+45del
ENST00000679782.1:c.56+43_56+45del	ENSP00000505995.1:n.56+43_56+45del
ENST00000679928.1:c.56+43_56+45del	ENSP00000506071.1:n.56+43_56+45del
ENST00000680528.1:n.81+43_81+45del
ENST00000680999.1:c.56+43_56+45del	ENSP00000504984.1:n.56+43_56+45del
ENST00000681282.1:c.56+43_56+45del	ENSP00000506339.1:n.56+43_56+45del
ENST00000333213.10:c.56+43_56+45del	ENSP00000327487.6:n.56+43_56+45del
ENST00000434205.7:c.-83+273_-83+275del	ENSP00000406559.3:n.-83+273_-83+275del
ENST00000580013.5:n.81+43_81+45del
ENST00000583173.5:c.56+43_56+45del	ENSP00000463619.1:n.56+43_56+45del
ENST00000583454.1:n.91+43_91+45del
NM_207346.2:c.56+43_56+45del	NP_997229.2:n.56+43_56+45del
XM_005257229.2:c.56+43_56+45del	XP_005257286.1:n.56+43_56+45del
XM_006721821.2:c.-247-87_-247-85del	XP_006721884.1:n.-247-87_-247-85del
XM_011524616.1:c.56+43_56+45del	XP_011522918.1:n.56+43_56+45del
XM_011524617.1:c.56+43_56+45del	XP_011522919.1:n.56+43_56+45del
XM_011524618.1:c.56+43_56+45del	XP_011522920.1:n.56+43_56+45del
XR_243646.2:n.86+43_86+45del
XM_005257229.4:c.56+43_56+45del	XP_005257286.1:n.56+43_56+45del
XR_243646.4:n.92+43_92+45del
NM_207346.3:c.56+43_56+45del MANE Select	NP_997229.2:n.56+43_56+45del