Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880507_34880508delinsGT , CM000683.2:g.34880507_34880508delinsGT	GRCh38
NC_000021.8:g.36252804_36252805delinsGT , CM000683.1:g.36252804_36252805delinsGT	GRCh37
NC_000021.7:g.35174674_35174675delinsGT	NCBI36
NG_011402.2:g.1109204_1109205delinsAC , LRG_482:g.1109204_1109205delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.508+49_508+50delinsAC MANE Select	ENSP00000501943.1:n.508+49_508+50delinsAC
ENST00000300305.7:c.508+49_508+50delinsAC	ENSP00000300305.3:n.508+49_508+50delinsAC
ENST00000344691.8:c.427+49_427+50delinsAC	ENSP00000340690.4:n.427+49_427+50delinsAC
ENST00000358356.9:c.427+49_427+50delinsAC	ENSP00000351123.5:n.427+49_427+50delinsAC
ENST00000399237.6:c.472+49_472+50delinsAC	ENSP00000382182.2:n.472+49_472+50delinsAC
ENST00000399240.5:c.427+49_427+50delinsAC	ENSP00000382184.1:n.427+49_427+50delinsAC
ENST00000437180.5:c.508+49_508+50delinsAC	ENSP00000409227.1:n.508+49_508+50delinsAC
ENST00000482318.5:c.98+49_98+50delinsAC	ENSP00000477067.1:n.98+49_98+50delinsAC
NM_001001890.2:c.427+49_427+50delinsAC	NP_001001890.1:n.427+49_427+50delinsAC
NM_001122607.1:c.427+49_427+50delinsAC	NP_001116079.1:n.427+49_427+50delinsAC
NM_001754.4:c.508+49_508+50delinsAC , LRG_482t1:c.508+49_508+50delinsAC	NP_001745.2:n.508+49_508+50delinsAC
XM_005261068.3:c.472+49_472+50delinsAC	XP_005261125.1:n.472+49_472+50delinsAC
XM_005261069.3:c.508+49_508+50delinsAC	XP_005261126.1:n.508+49_508+50delinsAC
XM_011529766.1:c.508+49_508+50delinsAC	XP_011528068.1:n.508+49_508+50delinsAC
XM_011529767.1:c.469+49_469+50delinsAC	XP_011528069.1:n.469+49_469+50delinsAC
XM_011529768.1:c.469+49_469+50delinsAC	XP_011528070.1:n.469+49_469+50delinsAC
XM_011529770.1:c.508+49_508+50delinsAC	XP_011528072.1:n.508+49_508+50delinsAC
XR_937576.1:n.687+49_687+50delinsAC
XM_005261069.4:c.508+49_508+50delinsAC	XP_005261126.1:n.508+49_508+50delinsAC
XM_011529766.2:c.508+49_508+50delinsAC	XP_011528068.1:n.508+49_508+50delinsAC
XM_011529767.2:c.469+49_469+50delinsAC	XP_011528069.1:n.469+49_469+50delinsAC
XM_011529768.2:c.469+49_469+50delinsAC	XP_011528070.1:n.469+49_469+50delinsAC
XM_011529770.2:c.508+49_508+50delinsAC	XP_011528072.1:n.508+49_508+50delinsAC
XM_017028487.1:c.355+49_355+50delinsAC	XP_016883976.1:n.355+49_355+50delinsAC
XR_937576.2:n.734+49_734+50delinsAC
NM_001001890.3:c.427+49_427+50delinsAC	NP_001001890.1:n.427+49_427+50delinsAC
NM_001122607.2:c.427+49_427+50delinsAC	NP_001116079.1:n.427+49_427+50delinsAC
NM_001754.5:c.508+49_508+50delinsAC MANE Select	NP_001745.2:n.508+49_508+50delinsAC