Allele Registry

HGVS	Genome Assembly
NC_000017.11:g.44372373_44372376delinsCTCT , CM000679.2:g.44372373_44372376delinsCTCT	GRCh38
NC_000017.10:g.42449741_42449744delinsCTCT , CM000679.1:g.42449741_42449744delinsCTCT	GRCh37
NC_000017.9:g.39805267_39805270delinsCTCT	NCBI36
NG_008331.1:g.22130_22133delinsAGAG , LRG_479:g.22130_22133delinsAGAG

HGVS	Amino-acid Change
ENST00000262407.6:c.3108_3111delinsAGAG MANE Select	ENSP00000262407.5:p.Glu1036=
ENST00000648408.1:c.2422_2425delinsAGAG
ENST00000262407.5:c.3108_3111delinsAGAG	ENSP00000262407.5:p.Glu1036=
ENST00000587295.5:c.301_304delinsAGAG
ENST00000588098.1:c.85_88delinsAGAG
NM_000419.3:c.3108_3111delinsAGAG , LRG_479t1:c.3108_3111delinsAGAG	NP_000410.2:p.Glu1036=
XM_011524749.1:c.3006_3009delinsAGAG	XP_011523051.1:p.Glu1002=
XM_011524750.1:c.2991_2994delinsAGAG	XP_011523052.1:p.Glu997=
NM_000419.4:c.3108_3111delinsAGAG	NP_000410.2:p.Glu1036=
NM_000419.5:c.3108_3111delinsAGAG MANE Select	NP_000410.2:p.Glu1036=