Allele Registry

HGVS	Genome Assembly
NC_000023.11:g.18604521_18604522insAACACAC , CM000685.2:g.18604521_18604522insAACACAC	GRCh38
NC_000023.10:g.18622641_18622642insAACACAC , CM000685.1:g.18622641_18622642insAACACAC	GRCh37
NC_000023.9:g.18532562_18532563insAACACAC	NCBI36
NG_008475.1:g.183917_183918insAACACAC

HGVS	Amino-acid Change
ENST00000623535.2:c.1597_1598insAACACAC MANE Select	ENSP00000485244.1:p.Thr533LysfsTer7
ENST00000635828.1:c.1597_1598insAACACAC	ENSP00000490170.1:p.Thr533LysfsTer7
ENST00000674046.1:c.1597_1598insAACACAC	ENSP00000501174.1:p.Thr533LysfsTer7
ENST00000379989.6:c.1597_1598insAACACAC	ENSP00000369325.3:p.Thr533LysfsTer7
ENST00000379996.7:c.1597_1598insAACACAC	ENSP00000369332.3:p.Thr533LysfsTer7
ENST00000463994.4:c.1597_1598insAACACAC	ENSP00000485184.1:p.Thr533LysfsTer7
ENST00000623535.1:c.1597_1598insAACACAC	ENSP00000485244.1:p.Thr533LysfsTer7
NM_001037343.1:c.1597_1598insAACACAC	NP_001032420.1:p.Thr533LysfsTer7
NM_003159.2:c.1597_1598insAACACAC	NP_003150.1:p.Thr533LysfsTer7
XM_011545569.1:c.1546_1547insAACACAC	XP_011543871.1:p.Thr516LysfsTer7
XM_011545570.1:c.1465_1466insAACACAC	XP_011543872.1:p.Thr489LysfsTer7
XR_950484.1:n.1849_1850insAACACAC
NM_001323289.1:c.1597_1598insAACACAC	NP_001310218.1:p.Thr533LysfsTer7
NM_001323289.2:c.1597_1598insAACACAC MANE Select	NP_001310218.1:p.Thr533LysfsTer7
NM_001037343.2:c.1597_1598insAACACAC	NP_001032420.1:p.Thr533LysfsTer7
NM_003159.3:c.1597_1598insAACACAC	NP_003150.1:p.Thr533LysfsTer7