Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524083_50524085delinsCTG , CM000684.2:g.50524083_50524085delinsCTG	GRCh38
NC_000022.10:g.50962512_50962514delinsCTG , CM000684.1:g.50962512_50962514delinsCTG	GRCh37
NC_000022.9:g.49309378_49309380delinsCTG	NCBI36
NG_011860.1:g.11001_11003delinsCAG , LRG_727:g.11001_11003delinsCAG
NG_016235.1:g.7355_7357delinsCAG
NG_021419.1:g.20868_20870delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.327_329delinsCAG (SCO2) MANE Select	ENSP00000379046.4:p.His109=
ENST00000420993.7:c.708_710delinsCTG (NCAPH2) MANE Select	ENSP00000410088.2:n.708_710delinsCTG
ENST00000543927.6:c.327_329delinsCAG (SCO2)	ENSP00000444433.1:p.His109=
ENST00000638598.2:c.327_329delinsCAG (SCO2)	ENSP00000491753.2:p.His109=
ENST00000252785.3:c.327_329delinsCAG	ENSP00000252785.3:p.His109=
ENST00000395693.7:c.327_329delinsCAG	ENSP00000379046.3:p.His109=
ENST00000423348.1:c.327_329delinsCAG	ENSP00000403570.1:p.His109=
ENST00000439934.5:c.327_329delinsCAG	ENSP00000415642.1:p.His109=
ENST00000535425.5:c.327_329delinsCAG	ENSP00000444242.1:p.His109=
ENST00000543927.5:c.327_329delinsCAG	ENSP00000444433.1:p.His109=
NM_001169109.1:c.327_329delinsCAG (SCO2)	NP_001162580.1:p.His109=
NM_001169110.1:c.327_329delinsCAG (SCO2)	NP_001162581.1:p.His109=
NM_001169111.1:c.327_329delinsCAG (SCO2)	NP_001162582.1:p.His109=
NM_001185011.1:c.708_710delinsCTG (NCAPH2)	NP_001171940.1:n.708_710delinsCTG
NM_005138.2:c.327_329delinsCAG (SCO2)	NP_005129.2:p.His109=
NM_152299.3:c.708_710delinsCTG (NCAPH2)	NP_689512.2:n.708_710delinsCTG
XR_001755232.1:n.2736_2738delinsCTG (NCAPH2)
NM_152299.4:c.708_710delinsCTG (NCAPH2) MANE Select	NP_689512.2:n.708_710delinsCTG
NM_001185011.2:c.708_710delinsCTG (NCAPH2)	NP_001171940.1:n.708_710delinsCTG
NM_005138.3:c.327_329delinsCAG (SCO2) MANE Select	NP_005129.2:p.His109=
NM_001169109.2:c.327_329delinsCAG (SCO2)	NP_001162580.1:p.His109=
NM_001169111.2:c.327_329delinsCAG (SCO2)	NP_001162582.1:p.His109=