Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280657_186280658insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA , CM000666.2:g.186280657_186280658insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	GRCh38
NC_000004.11:g.187201811_187201812insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA , CM000666.1:g.187201811_187201812insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	GRCh37
NC_000004.10:g.187438805_187438806insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	NCBI36
NG_008051.1:g.19694_19695insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA , LRG_583:g.19694_19695insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1135+77_1135+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA MANE Select	ENSP00000384957.2:n.1135+77_1135+78insATCCACTCACCAAGGTCACCCTC...
ENST00000264692.8:c.973+77_973+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	ENSP00000264692.5:n.973+77_973+78insATCCACTCACCAAGGTCACCCTCAT...
ENST00000403665.6:c.1135+77_1135+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	ENSP00000384957.2:n.1135+77_1135+78insATCCACTCACCAAGGTCACCCTC...
ENST00000452239.1:c.582+77_582+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA
NM_000128.3:c.1135+77_1135+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA , LRG_583t1:c.1135+77_1135+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	NP_000119.1:n.1135+77_1135+78insATCCACTCACCAAGGTCACCCTCATCGAC...
XM_005262821.2:c.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_005262878.1:n.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATC...
XM_005262822.2:c.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_005262879.1:n.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATC...
XM_005262823.2:c.868+77_868+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_005262880.1:n.868+77_868+78insATCCACTCACCAAGGTCACCCTCATCGA...
XM_005262824.1:c.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_005262881.1:n.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATC...
XM_006714137.1:c.1090+77_1090+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_006714200.1:n.1090+77_1090+78insATCCACTCACCAAGGTCACCCTCATC...
XR_938706.1:n.1490+77_1490+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA
XR_938707.1:n.1490+77_1490+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA
XM_005262821.4:c.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_005262878.1:n.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATC...
XM_005262822.4:c.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_005262879.1:n.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATC...
XM_005262823.4:c.868+77_868+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_005262880.1:n.868+77_868+78insATCCACTCACCAAGGTCACCCTCATCGA...
XM_006714137.3:c.1090+77_1090+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_006714200.1:n.1090+77_1090+78insATCCACTCACCAAGGTCACCCTCATC...
XM_017007884.2:c.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_016863373.1:n.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATC...
XM_017007885.2:c.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_016863374.1:n.1138+77_1138+78insATCCACTCACCAAGGTCACCCTCATC...
XM_017007886.2:c.1135+77_1135+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA	XP_016863375.1:n.1135+77_1135+78insATCCACTCACCAAGGTCACCCTCATC...
XR_001741172.2:n.1556+77_1556+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA
NM_000128.4:c.1135+77_1135+78insATCCACTCACCAAGGTCACCCTCATCGACGATGGTAAGAACATCCTCACTATCACCGAAAAGAAGAGTGGCCTTGAAACCGTCACCAACCTCCAGTCCAACGGCGACTCCATCTATCCGA MANE Select	NP_000119.1:n.1135+77_1135+78insATCCACTCACCAAGGTCACCCTCATCGAC...