Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826388_88826389insCGGCGGCCAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTG , CM000678.2:g.88826388_88826389insCGGCGGCCAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTG	GRCh38
NC_000016.9:g.88892796_88892797insCGGCGGCCAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTG , CM000678.1:g.88892796_88892797insCGGCGGCCAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTG	GRCh37
NC_000016.8:g.87420297_87420298insCGGCGGCCAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTG	NCBI36
NG_008667.1:g.35620_35621insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG MANE Select	ENSP00000268695.5:n.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCT...
ENST00000268695.9:c.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	ENSP00000268695.5:n.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCT...
ENST00000562593.5:n.4548+355_4548+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG
ENST00000564263.1:n.415+355_415+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG
ENST00000567525.5:c.820+355_820+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	ENSP00000454484.1:n.820+355_820+356insGCCGCCGCACCCCTGTTCCCTGC...
ENST00000568613.5:c.1258+355_1258+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	ENSP00000457921.1:n.1258+355_1258+356insGCCGCCGCACCCCTGTTCCCT...
NM_000512.4:c.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	NP_000503.1:n.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCTGCCTGT...
XM_005256301.2:c.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	XP_005256358.1:n.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCTGCC...
XM_005256302.1:c.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	XP_005256359.1:n.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCC...
XM_011522982.1:c.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	XP_011521284.1:n.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCC...
XM_011522984.1:c.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	XP_011521286.1:n.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCC...
NM_001323543.1:c.584+355_584+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	NP_001310472.1:n.584+355_584+356insGCCGCCGCACCCCTGTTCCCTGCCTG...
NM_001323544.1:c.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	NP_001310473.1:n.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCC...
XM_005256301.3:c.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	XP_005256358.1:n.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCTGCC...
XM_011522982.2:c.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	XP_011521284.1:n.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCC...
XM_017023111.2:c.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	XP_016878600.1:n.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCC...
XM_017023112.2:c.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	XP_016878601.1:n.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCC...
XM_017023113.1:c.584+355_584+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	XP_016878602.1:n.584+355_584+356insGCCGCCGCACCCCTGTTCCCTGCCTG...
NM_000512.5:c.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG MANE Select	NP_000503.1:n.1139+355_1139+356insGCCGCCGCACCCCTGTTCCCTGCCTGT...
NM_001323543.2:c.584+355_584+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	NP_001310472.1:n.584+355_584+356insGCCGCCGCACCCCTGTTCCCTGCCTG...
NM_001323544.2:c.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCACCCCTG	NP_001310473.1:n.1157+355_1157+356insGCCGCCGCACCCCTGTTCCCTGCC...