Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868574_81868580delinsGGAGATA , CM000679.2:g.81868574_81868580delinsGGAGATA	GRCh38
NC_000017.10:g.79826450_79826456delinsGGAGATA , CM000679.1:g.79826450_79826456delinsGGAGATA	GRCh37
NC_000017.9:g.77419739_77419745delinsGGAGATA	NCBI36
NG_034210.1:g.7827_7833delinsTATCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.296_302delinsTATCTCC MANE Select	ENSP00000269321.7:n.296_302delinsTATCTCC
ENST00000269321.11:c.296_302delinsTATCTCC	ENSP00000269321.7:n.296_302delinsTATCTCC
ENST00000400721.8:c.296_302delinsTATCTCC	ENSP00000383556.4:n.296_302delinsTATCTCC
ENST00000541078.6:c.296_302delinsTATCTCC	ENSP00000441348.2:n.296_302delinsTATCTCC
ENST00000579121.5:c.507_513delinsTATCTCC	ENSP00000462960.1:p.Ser169=
ENST00000580685.5:c.296_302delinsTATCTCC	ENSP00000464205.1:n.296_302delinsTATCTCC
ENST00000582520.1:n.46+5_46+11delinsTATCTCC
ENST00000584461.5:c.507_513delinsTATCTCC	ENSP00000463939.1:p.Ser169=
NM_001185077.2:c.296_302delinsTATCTCC	NP_001172006.1:n.296_302delinsTATCTCC
NM_001185078.2:c.296_302delinsTATCTCC	NP_001172007.1:n.296_302delinsTATCTCC
NM_001301240.1:c.507_513delinsTATCTCC	NP_001288169.1:p.Ser169=
NM_001301241.1:c.507_513delinsTATCTCC	NP_001288170.1:p.Ser169=
NM_001301242.1:c.799_805delinsTATCTCC	NP_001288171.1:p.Tyr267=
NM_001301243.1:c.296_302delinsTATCTCC	NP_001288172.1:n.296_302delinsTATCTCC
NM_004309.5:c.296_302delinsTATCTCC	NP_004300.1:n.296_302delinsTATCTCC
NR_125441.1:n.970_976delinsTATCTCC
XM_011523574.1:c.296_302delinsTATCTCC	XP_011521876.1:n.296_302delinsTATCTCC
NM_004309.6:c.296_302delinsTATCTCC MANE Select	NP_004300.1:n.296_302delinsTATCTCC
NM_001185077.3:c.296_302delinsTATCTCC	NP_001172006.1:n.296_302delinsTATCTCC
NM_001185078.3:c.296_302delinsTATCTCC	NP_001172007.1:n.296_302delinsTATCTCC
NM_001301240.2:c.507_513delinsTATCTCC	NP_001288169.1:p.Ser169=
NM_001301241.2:c.507_513delinsTATCTCC	NP_001288170.1:p.Ser169=
NM_001301242.2:c.799_805delinsTATCTCC	NP_001288171.1:p.Tyr267=
NM_001301243.2:c.296_302delinsTATCTCC	NP_001288172.1:n.296_302delinsTATCTCC
NR_125441.2:n.901_907delinsTATCTCC

HGVS	Amino-acid Change
ENST00000269321.12:c.296_302delinsTATCTCC MANE Select	ENSP00000269321.7:n.296_302delinsTATCTCC
ENST00000269321.11:c.296_302delinsTATCTCC	ENSP00000269321.7:n.296_302delinsTATCTCC
ENST00000400721.8:c.296_302delinsTATCTCC	ENSP00000383556.4:n.296_302delinsTATCTCC
ENST00000541078.6:c.296_302delinsTATCTCC	ENSP00000441348.2:n.296_302delinsTATCTCC
ENST00000579121.5:c.507_513delinsTATCTCC	ENSP00000462960.1:p.Ser169=
ENST00000580685.5:c.296_302delinsTATCTCC	ENSP00000464205.1:n.296_302delinsTATCTCC
ENST00000582520.1:n.46+5_46+11delinsTATCTCC
ENST00000584461.5:c.507_513delinsTATCTCC	ENSP00000463939.1:p.Ser169=
NM_001185077.2:c.296_302delinsTATCTCC	NP_001172006.1:n.296_302delinsTATCTCC
NM_001185078.2:c.296_302delinsTATCTCC	NP_001172007.1:n.296_302delinsTATCTCC
NM_001301240.1:c.507_513delinsTATCTCC	NP_001288169.1:p.Ser169=
NM_001301241.1:c.507_513delinsTATCTCC	NP_001288170.1:p.Ser169=
NM_001301242.1:c.799_805delinsTATCTCC	NP_001288171.1:p.Tyr267=
NM_001301243.1:c.296_302delinsTATCTCC	NP_001288172.1:n.296_302delinsTATCTCC
NM_004309.5:c.296_302delinsTATCTCC	NP_004300.1:n.296_302delinsTATCTCC
NR_125441.1:n.970_976delinsTATCTCC
XM_011523574.1:c.296_302delinsTATCTCC	XP_011521876.1:n.296_302delinsTATCTCC
NM_004309.6:c.296_302delinsTATCTCC MANE Select	NP_004300.1:n.296_302delinsTATCTCC
NM_001185077.3:c.296_302delinsTATCTCC	NP_001172006.1:n.296_302delinsTATCTCC
NM_001185078.3:c.296_302delinsTATCTCC	NP_001172007.1:n.296_302delinsTATCTCC
NM_001301240.2:c.507_513delinsTATCTCC	NP_001288169.1:p.Ser169=
NM_001301241.2:c.507_513delinsTATCTCC	NP_001288170.1:p.Ser169=
NM_001301242.2:c.799_805delinsTATCTCC	NP_001288171.1:p.Tyr267=
NM_001301243.2:c.296_302delinsTATCTCC	NP_001288172.1:n.296_302delinsTATCTCC
NR_125441.2:n.901_907delinsTATCTCC