Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20766548_20766558delinsTCTTAATTACA , CM000668.2:g.20766548_20766558delinsTCTTAATTACA	GRCh38
NC_000006.11:g.20766779_20766789delinsTCTTAATTACA , CM000668.1:g.20766779_20766789delinsTCTTAATTACA	GRCh37
NC_000006.10:g.20874758_20874768delinsTCTTAATTACA	NCBI36
NG_021195.1:g.237092_237102delinsTCTTAATTACA
NG_021195.2:g.237092_237102delinsTCTTAATTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274695.8:c.517+7905_517+7915delinsTCTTAATTACA MANE Select	ENSP00000274695.4:n.517+7905_517+7915delinsTCTTAATTACA
ENST00000378610.1:c.517+7905_517+7915delinsTCTTAATTACA	ENSP00000367873.1:n.517+7905_517+7915delinsTCTTAATTACA
NM_017774.3:c.517+7905_517+7915delinsTCTTAATTACA MANE Select	NP_060244.2:n.517+7905_517+7915delinsTCTTAATTACA
XM_006715128.2:c.517+7905_517+7915delinsTCTTAATTACA	XP_006715191.1:n.517+7905_517+7915delinsTCTTAATTACA
XM_011514718.1:c.517+7905_517+7915delinsTCTTAATTACA	XP_011513020.1:n.517+7905_517+7915delinsTCTTAATTACA
XM_011514719.1:c.517+7905_517+7915delinsTCTTAATTACA	XP_011513021.1:n.517+7905_517+7915delinsTCTTAATTACA
XR_926265.1:n.684+7905_684+7915delinsTCTTAATTACA
XR_926266.1:n.797+7905_797+7915delinsTCTTAATTACA
XR_926267.1:n.684+7905_684+7915delinsTCTTAATTACA
XM_011514719.2:c.517+7905_517+7915delinsTCTTAATTACA	XP_011513021.1:n.517+7905_517+7915delinsTCTTAATTACA
XM_017010986.1:c.517+7905_517+7915delinsTCTTAATTACA	XP_016866475.1:n.517+7905_517+7915delinsTCTTAATTACA
XM_017010987.1:c.-238+7905_-238+7915delinsTCTTAATTACA	XP_016866476.1:n.-238+7905_-238+7915delinsTCTTAATTACA
XM_024446481.1:c.517+7905_517+7915delinsTCTTAATTACA	XP_024302249.1:n.517+7905_517+7915delinsTCTTAATTACA
XR_001743495.2:n.689+7905_689+7915delinsTCTTAATTACA
XR_001743496.2:n.1084+7905_1084+7915delinsTCTTAATTACA
XR_001743500.1:n.684+7905_684+7915delinsTCTTAATTACA
XR_001743501.1:n.684+7905_684+7915delinsTCTTAATTACA
XR_926265.2:n.684+7905_684+7915delinsTCTTAATTACA
XR_926266.2:n.797+7905_797+7915delinsTCTTAATTACA
XR_926267.2:n.684+7905_684+7915delinsTCTTAATTACA