Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868835_81868843delinsTCGTCCGTC , CM000679.2:g.81868835_81868843delinsTCGTCCGTC	GRCh38
NC_000017.10:g.79826711_79826719delinsTCGTCCGTC , CM000679.1:g.79826711_79826719delinsTCGTCCGTC	GRCh37
NC_000017.9:g.77420000_77420008delinsTCGTCCGTC	NCBI36
NG_034210.1:g.7564_7572delinsGACGGACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.33_41delinsGACGGACGA MANE Select	ENSP00000269321.7:n.33_41delinsGACGGACGA
ENST00000269321.11:c.33_41delinsGACGGACGA	ENSP00000269321.7:n.33_41delinsGACGGACGA
ENST00000400721.8:c.33_41delinsGACGGACGA	ENSP00000383556.4:n.33_41delinsGACGGACGA
ENST00000541078.6:c.33_41delinsGACGGACGA	ENSP00000441348.2:n.33_41delinsGACGGACGA
ENST00000579121.5:c.502+146_502+154delinsGACGGACGA	ENSP00000462960.1:n.502+146_502+154delinsGACGGACGA
ENST00000580685.5:c.33_41delinsGACGGACGA	ENSP00000464205.1:n.33_41delinsGACGGACGA
ENST00000581876.5:c.33_41delinsGACGGACGA	ENSP00000461956.1:n.33_41delinsGACGGACGA
ENST00000583868.5:c.536_544delinsGACGGACGA	ENSP00000462209.1:p.Gly179=
ENST00000584461.5:c.502+146_502+154delinsGACGGACGA	ENSP00000463939.1:n.502+146_502+154delinsGACGGACGA
NM_001185077.2:c.33_41delinsGACGGACGA	NP_001172006.1:n.33_41delinsGACGGACGA
NM_001185078.2:c.33_41delinsGACGGACGA	NP_001172007.1:n.33_41delinsGACGGACGA
NM_001301240.1:c.502+146_502+154delinsGACGGACGA	NP_001288169.1:n.502+146_502+154delinsGACGGACGA
NM_001301241.1:c.502+146_502+154delinsGACGGACGA	NP_001288170.1:n.502+146_502+154delinsGACGGACGA
NM_001301242.1:c.536_544delinsGACGGACGA	NP_001288171.1:p.Gly179=
NM_001301243.1:c.33_41delinsGACGGACGA	NP_001288172.1:n.33_41delinsGACGGACGA
NM_004309.5:c.33_41delinsGACGGACGA	NP_004300.1:n.33_41delinsGACGGACGA
NR_125441.1:n.707_715delinsGACGGACGA
XM_011523574.1:c.33_41delinsGACGGACGA	XP_011521876.1:n.33_41delinsGACGGACGA
NM_004309.6:c.33_41delinsGACGGACGA MANE Select	NP_004300.1:n.33_41delinsGACGGACGA
NM_001185077.3:c.33_41delinsGACGGACGA	NP_001172006.1:n.33_41delinsGACGGACGA
NM_001185078.3:c.33_41delinsGACGGACGA	NP_001172007.1:n.33_41delinsGACGGACGA
NM_001301240.2:c.502+146_502+154delinsGACGGACGA	NP_001288169.1:n.502+146_502+154delinsGACGGACGA
NM_001301241.2:c.502+146_502+154delinsGACGGACGA	NP_001288170.1:n.502+146_502+154delinsGACGGACGA
NM_001301242.2:c.536_544delinsGACGGACGA	NP_001288171.1:p.Gly179=
NM_001301243.2:c.33_41delinsGACGGACGA	NP_001288172.1:n.33_41delinsGACGGACGA
NR_125441.2:n.638_646delinsGACGGACGA

HGVS	Amino-acid Change
ENST00000269321.12:c.33_41delinsGACGGACGA MANE Select	ENSP00000269321.7:n.33_41delinsGACGGACGA
ENST00000269321.11:c.33_41delinsGACGGACGA	ENSP00000269321.7:n.33_41delinsGACGGACGA
ENST00000400721.8:c.33_41delinsGACGGACGA	ENSP00000383556.4:n.33_41delinsGACGGACGA
ENST00000541078.6:c.33_41delinsGACGGACGA	ENSP00000441348.2:n.33_41delinsGACGGACGA
ENST00000579121.5:c.502+146_502+154delinsGACGGACGA	ENSP00000462960.1:n.502+146_502+154delinsGACGGACGA
ENST00000580685.5:c.33_41delinsGACGGACGA	ENSP00000464205.1:n.33_41delinsGACGGACGA
ENST00000581876.5:c.33_41delinsGACGGACGA	ENSP00000461956.1:n.33_41delinsGACGGACGA
ENST00000583868.5:c.536_544delinsGACGGACGA	ENSP00000462209.1:p.Gly179=
ENST00000584461.5:c.502+146_502+154delinsGACGGACGA	ENSP00000463939.1:n.502+146_502+154delinsGACGGACGA
NM_001185077.2:c.33_41delinsGACGGACGA	NP_001172006.1:n.33_41delinsGACGGACGA
NM_001185078.2:c.33_41delinsGACGGACGA	NP_001172007.1:n.33_41delinsGACGGACGA
NM_001301240.1:c.502+146_502+154delinsGACGGACGA	NP_001288169.1:n.502+146_502+154delinsGACGGACGA
NM_001301241.1:c.502+146_502+154delinsGACGGACGA	NP_001288170.1:n.502+146_502+154delinsGACGGACGA
NM_001301242.1:c.536_544delinsGACGGACGA	NP_001288171.1:p.Gly179=
NM_001301243.1:c.33_41delinsGACGGACGA	NP_001288172.1:n.33_41delinsGACGGACGA
NM_004309.5:c.33_41delinsGACGGACGA	NP_004300.1:n.33_41delinsGACGGACGA
NR_125441.1:n.707_715delinsGACGGACGA
XM_011523574.1:c.33_41delinsGACGGACGA	XP_011521876.1:n.33_41delinsGACGGACGA
NM_004309.6:c.33_41delinsGACGGACGA MANE Select	NP_004300.1:n.33_41delinsGACGGACGA
NM_001185077.3:c.33_41delinsGACGGACGA	NP_001172006.1:n.33_41delinsGACGGACGA
NM_001185078.3:c.33_41delinsGACGGACGA	NP_001172007.1:n.33_41delinsGACGGACGA
NM_001301240.2:c.502+146_502+154delinsGACGGACGA	NP_001288169.1:n.502+146_502+154delinsGACGGACGA
NM_001301241.2:c.502+146_502+154delinsGACGGACGA	NP_001288170.1:n.502+146_502+154delinsGACGGACGA
NM_001301242.2:c.536_544delinsGACGGACGA	NP_001288171.1:p.Gly179=
NM_001301243.2:c.33_41delinsGACGGACGA	NP_001288172.1:n.33_41delinsGACGGACGA
NR_125441.2:n.638_646delinsGACGGACGA