Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580854_8580864delinsGAGACCCCGCC , CM000681.2:g.8580854_8580864delinsGAGACCCCGCC	GRCh38
NC_000019.9:g.8645738_8645748delinsGAGACCCCGCC , CM000681.1:g.8645738_8645748delinsGAGACCCCGCC	GRCh37
NC_000019.8:g.8551738_8551748delinsGAGACCCCGCC	NCBI36
NG_011840.2:g.34839_34849delinsGGCGGGGTCTC
NG_052844.1:g.1584_1594delinsGGCGGGGTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.29_39delinsGGCGGGGTCTC MANE Select	ENSP00000471851.1:n.29_39delinsGGCGGGGTCTC
ENST00000270328.8:c.29_39delinsGGCGGGGTCTC	ENSP00000270328.4:n.29_39delinsGGCGGGGTCTC
ENST00000593913.5:c.2218_2228delinsGGCGGGGTCTC	ENSP00000469901.1:n.2218_2228delinsGGCGGGGTCTC
ENST00000595838.5:c.29_39delinsGGCGGGGTCTC	ENSP00000470501.1:n.29_39delinsGGCGGGGTCTC
ENST00000597188.5:c.29_39delinsGGCGGGGTCTC	ENSP00000471851.1:n.29_39delinsGGCGGGGTCTC
NM_001282352.1:c.29_39delinsGGCGGGGTCTC	NP_001269281.1:n.29_39delinsGGCGGGGTCTC
NM_030957.3:c.29_39delinsGGCGGGGTCTC	NP_112219.3:n.29_39delinsGGCGGGGTCTC
XM_006722917.2:c.29_39delinsGGCGGGGTCTC	XP_006722980.1:n.29_39delinsGGCGGGGTCTC
XM_011528331.1:c.29_39delinsGGCGGGGTCTC	XP_011526633.1:n.29_39delinsGGCGGGGTCTC
XM_011528332.1:c.29_39delinsGGCGGGGTCTC	XP_011526634.1:n.29_39delinsGGCGGGGTCTC
XM_011528333.1:c.29_39delinsGGCGGGGTCTC	XP_011526635.1:n.29_39delinsGGCGGGGTCTC
XM_011528334.1:c.29_39delinsGGCGGGGTCTC	XP_011526636.1:n.29_39delinsGGCGGGGTCTC
XM_011528335.1:c.29_39delinsGGCGGGGTCTC	XP_011526637.1:n.29_39delinsGGCGGGGTCTC
XM_011528336.1:c.29_39delinsGGCGGGGTCTC	XP_011526638.1:n.29_39delinsGGCGGGGTCTC
XM_006722917.3:c.29_39delinsGGCGGGGTCTC	XP_006722980.1:n.29_39delinsGGCGGGGTCTC
XM_017027338.2:c.29_39delinsGGCGGGGTCTC	XP_016882827.1:n.29_39delinsGGCGGGGTCTC
XM_017027339.1:c.29_39delinsGGCGGGGTCTC	XP_016882828.1:n.29_39delinsGGCGGGGTCTC
XM_017027340.1:c.29_39delinsGGCGGGGTCTC	XP_016882829.1:n.29_39delinsGGCGGGGTCTC
NM_030957.4:c.29_39delinsGGCGGGGTCTC MANE Select	NP_112219.3:n.29_39delinsGGCGGGGTCTC
NM_001282352.2:c.29_39delinsGGCGGGGTCTC	NP_001269281.1:n.29_39delinsGGCGGGGTCTC

HGVS	Amino-acid Change
ENST00000597188.6:c.29_39delinsGGCGGGGTCTC MANE Select	ENSP00000471851.1:n.29_39delinsGGCGGGGTCTC
ENST00000270328.8:c.29_39delinsGGCGGGGTCTC	ENSP00000270328.4:n.29_39delinsGGCGGGGTCTC
ENST00000593913.5:c.2218_2228delinsGGCGGGGTCTC	ENSP00000469901.1:n.2218_2228delinsGGCGGGGTCTC
ENST00000595838.5:c.29_39delinsGGCGGGGTCTC	ENSP00000470501.1:n.29_39delinsGGCGGGGTCTC
ENST00000597188.5:c.29_39delinsGGCGGGGTCTC	ENSP00000471851.1:n.29_39delinsGGCGGGGTCTC
NM_001282352.1:c.29_39delinsGGCGGGGTCTC	NP_001269281.1:n.29_39delinsGGCGGGGTCTC
NM_030957.3:c.29_39delinsGGCGGGGTCTC	NP_112219.3:n.29_39delinsGGCGGGGTCTC
XM_006722917.2:c.29_39delinsGGCGGGGTCTC	XP_006722980.1:n.29_39delinsGGCGGGGTCTC
XM_011528331.1:c.29_39delinsGGCGGGGTCTC	XP_011526633.1:n.29_39delinsGGCGGGGTCTC
XM_011528332.1:c.29_39delinsGGCGGGGTCTC	XP_011526634.1:n.29_39delinsGGCGGGGTCTC
XM_011528333.1:c.29_39delinsGGCGGGGTCTC	XP_011526635.1:n.29_39delinsGGCGGGGTCTC
XM_011528334.1:c.29_39delinsGGCGGGGTCTC	XP_011526636.1:n.29_39delinsGGCGGGGTCTC
XM_011528335.1:c.29_39delinsGGCGGGGTCTC	XP_011526637.1:n.29_39delinsGGCGGGGTCTC
XM_011528336.1:c.29_39delinsGGCGGGGTCTC	XP_011526638.1:n.29_39delinsGGCGGGGTCTC
XM_006722917.3:c.29_39delinsGGCGGGGTCTC	XP_006722980.1:n.29_39delinsGGCGGGGTCTC
XM_017027338.2:c.29_39delinsGGCGGGGTCTC	XP_016882827.1:n.29_39delinsGGCGGGGTCTC
XM_017027339.1:c.29_39delinsGGCGGGGTCTC	XP_016882828.1:n.29_39delinsGGCGGGGTCTC
XM_017027340.1:c.29_39delinsGGCGGGGTCTC	XP_016882829.1:n.29_39delinsGGCGGGGTCTC
NM_030957.4:c.29_39delinsGGCGGGGTCTC MANE Select	NP_112219.3:n.29_39delinsGGCGGGGTCTC
NM_001282352.2:c.29_39delinsGGCGGGGTCTC	NP_001269281.1:n.29_39delinsGGCGGGGTCTC