Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880373_34880375delinsAAT , CM000683.2:g.34880373_34880375delinsAAT	GRCh38
NC_000021.8:g.36252670_36252672delinsAAT , CM000683.1:g.36252670_36252672delinsAAT	GRCh37
NC_000021.7:g.35174540_35174542delinsAAT	NCBI36
NG_011402.2:g.1109337_1109339delinsATT , LRG_482:g.1109337_1109339delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.508+182_508+184delinsATT MANE Select	ENSP00000501943.1:n.508+182_508+184delinsATT
ENST00000300305.7:c.508+182_508+184delinsATT	ENSP00000300305.3:n.508+182_508+184delinsATT
ENST00000344691.8:c.427+182_427+184delinsATT	ENSP00000340690.4:n.427+182_427+184delinsATT
ENST00000358356.9:c.427+182_427+184delinsATT	ENSP00000351123.5:n.427+182_427+184delinsATT
ENST00000399237.6:c.472+182_472+184delinsATT	ENSP00000382182.2:n.472+182_472+184delinsATT
ENST00000399240.5:c.427+182_427+184delinsATT	ENSP00000382184.1:n.427+182_427+184delinsATT
ENST00000437180.5:c.508+182_508+184delinsATT	ENSP00000409227.1:n.508+182_508+184delinsATT
ENST00000482318.5:c.98+182_98+184delinsATT	ENSP00000477067.1:n.98+182_98+184delinsATT
NM_001001890.2:c.427+182_427+184delinsATT	NP_001001890.1:n.427+182_427+184delinsATT
NM_001122607.1:c.427+182_427+184delinsATT	NP_001116079.1:n.427+182_427+184delinsATT
NM_001754.4:c.508+182_508+184delinsATT , LRG_482t1:c.508+182_508+184delinsATT	NP_001745.2:n.508+182_508+184delinsATT
XM_005261068.3:c.472+182_472+184delinsATT	XP_005261125.1:n.472+182_472+184delinsATT
XM_005261069.3:c.508+182_508+184delinsATT	XP_005261126.1:n.508+182_508+184delinsATT
XM_011529766.1:c.508+182_508+184delinsATT	XP_011528068.1:n.508+182_508+184delinsATT
XM_011529767.1:c.469+182_469+184delinsATT	XP_011528069.1:n.469+182_469+184delinsATT
XM_011529768.1:c.469+182_469+184delinsATT	XP_011528070.1:n.469+182_469+184delinsATT
XM_011529770.1:c.508+182_508+184delinsATT	XP_011528072.1:n.508+182_508+184delinsATT
XR_937576.1:n.687+182_687+184delinsATT
XM_005261069.4:c.508+182_508+184delinsATT	XP_005261126.1:n.508+182_508+184delinsATT
XM_011529766.2:c.508+182_508+184delinsATT	XP_011528068.1:n.508+182_508+184delinsATT
XM_011529767.2:c.469+182_469+184delinsATT	XP_011528069.1:n.469+182_469+184delinsATT
XM_011529768.2:c.469+182_469+184delinsATT	XP_011528070.1:n.469+182_469+184delinsATT
XM_011529770.2:c.508+182_508+184delinsATT	XP_011528072.1:n.508+182_508+184delinsATT
XM_017028487.1:c.355+182_355+184delinsATT	XP_016883976.1:n.355+182_355+184delinsATT
XR_937576.2:n.734+182_734+184delinsATT
NM_001001890.3:c.427+182_427+184delinsATT	NP_001001890.1:n.427+182_427+184delinsATT
NM_001122607.2:c.427+182_427+184delinsATT	NP_001116079.1:n.427+182_427+184delinsATT
NM_001754.5:c.508+182_508+184delinsATT MANE Select	NP_001745.2:n.508+182_508+184delinsATT