Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184628683_184628687delinsGTTTC , CM000666.2:g.184628683_184628687delinsGTTTC	GRCh38
NC_000004.11:g.185549837_185549841delinsGTTTC , CM000666.1:g.185549837_185549841delinsGTTTC	GRCh37
NC_000004.10:g.185786831_185786835delinsGTTTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.585_589delinsGAAAC	ENSP00000514797.1:n.585_589delinsGAAAC
ENST00000700101.1:c.585_589delinsGAAAC	ENSP00000514798.1:n.585_589delinsGAAAC
ENST00000700102.1:n.3022_3026delinsGAAAC
ENST00000700103.1:n.4384_4388delinsGAAAC
ENST00000700104.1:c.1168_1172delinsGAAAC	ENSP00000514799.1:n.1168_1172delinsGAAAC
ENST00000308394.9:c.585_589delinsGAAAC MANE Select	ENSP00000311032.4:n.585_589delinsGAAAC
ENST00000308394.8:c.585_589delinsGAAAC	ENSP00000311032.4:n.585_589delinsGAAAC
ENST00000393585.6:c.749_753delinsGAAAC	ENSP00000377210.2:n.749_753delinsGAAAC
ENST00000523916.5:c.585_589delinsGAAAC	ENSP00000428929.1:n.585_589delinsGAAAC
ENST00000613118.4:c.852_856delinsGAAAC	ENSP00000478339.1:n.852_856delinsGAAAC
NM_004346.3:c.585_589delinsGAAAC	NP_004337.2:n.585_589delinsGAAAC
NM_032991.2:c.585_589delinsGAAAC	NP_116786.1:n.585_589delinsGAAAC
XM_011532301.1:c.585_589delinsGAAAC	XP_011530603.1:n.585_589delinsGAAAC
NM_001354777.1:c.585_589delinsGAAAC	NP_001341706.1:n.585_589delinsGAAAC
NM_001354779.1:c.585_589delinsGAAAC	NP_001341708.1:n.585_589delinsGAAAC
NM_001354780.1:c.585_589delinsGAAAC	NP_001341709.1:n.585_589delinsGAAAC
NM_001354781.1:c.749_753delinsGAAAC	NP_001341710.1:n.749_753delinsGAAAC
NM_001354782.1:c.749_753delinsGAAAC	NP_001341711.1:n.749_753delinsGAAAC
NM_001354783.1:c.749_753delinsGAAAC	NP_001341712.1:n.749_753delinsGAAAC
NM_001354784.1:c.749_753delinsGAAAC	NP_001341713.1:n.749_753delinsGAAAC
NM_004346.4:c.585_589delinsGAAAC MANE Select	NP_004337.2:n.585_589delinsGAAAC
NM_001354777.2:c.585_589delinsGAAAC	NP_001341706.1:n.585_589delinsGAAAC
NM_001354779.2:c.585_589delinsGAAAC	NP_001341708.1:n.585_589delinsGAAAC
NM_001354780.2:c.585_589delinsGAAAC	NP_001341709.1:n.585_589delinsGAAAC
NM_001354781.2:c.749_753delinsGAAAC	NP_001341710.1:n.749_753delinsGAAAC
NM_001354782.2:c.749_753delinsGAAAC	NP_001341711.1:n.749_753delinsGAAAC
NM_001354783.2:c.749_753delinsGAAAC	NP_001341712.1:n.749_753delinsGAAAC
NM_001354784.2:c.749_753delinsGAAAC	NP_001341713.1:n.749_753delinsGAAAC
NM_032991.3:c.585_589delinsGAAAC	NP_116786.1:n.585_589delinsGAAAC

HGVS	Amino-acid Change
ENST00000700100.1:c.585_589delinsGAAAC	ENSP00000514797.1:n.585_589delinsGAAAC
ENST00000700101.1:c.585_589delinsGAAAC	ENSP00000514798.1:n.585_589delinsGAAAC
ENST00000700102.1:n.3022_3026delinsGAAAC
ENST00000700103.1:n.4384_4388delinsGAAAC
ENST00000700104.1:c.1168_1172delinsGAAAC	ENSP00000514799.1:n.1168_1172delinsGAAAC
ENST00000308394.9:c.585_589delinsGAAAC MANE Select	ENSP00000311032.4:n.585_589delinsGAAAC
ENST00000308394.8:c.585_589delinsGAAAC	ENSP00000311032.4:n.585_589delinsGAAAC
ENST00000393585.6:c.749_753delinsGAAAC	ENSP00000377210.2:n.749_753delinsGAAAC
ENST00000523916.5:c.585_589delinsGAAAC	ENSP00000428929.1:n.585_589delinsGAAAC
ENST00000613118.4:c.852_856delinsGAAAC	ENSP00000478339.1:n.852_856delinsGAAAC
NM_004346.3:c.585_589delinsGAAAC	NP_004337.2:n.585_589delinsGAAAC
NM_032991.2:c.585_589delinsGAAAC	NP_116786.1:n.585_589delinsGAAAC
XM_011532301.1:c.585_589delinsGAAAC	XP_011530603.1:n.585_589delinsGAAAC
NM_001354777.1:c.585_589delinsGAAAC	NP_001341706.1:n.585_589delinsGAAAC
NM_001354779.1:c.585_589delinsGAAAC	NP_001341708.1:n.585_589delinsGAAAC
NM_001354780.1:c.585_589delinsGAAAC	NP_001341709.1:n.585_589delinsGAAAC
NM_001354781.1:c.749_753delinsGAAAC	NP_001341710.1:n.749_753delinsGAAAC
NM_001354782.1:c.749_753delinsGAAAC	NP_001341711.1:n.749_753delinsGAAAC
NM_001354783.1:c.749_753delinsGAAAC	NP_001341712.1:n.749_753delinsGAAAC
NM_001354784.1:c.749_753delinsGAAAC	NP_001341713.1:n.749_753delinsGAAAC
NM_004346.4:c.585_589delinsGAAAC MANE Select	NP_004337.2:n.585_589delinsGAAAC
NM_001354777.2:c.585_589delinsGAAAC	NP_001341706.1:n.585_589delinsGAAAC
NM_001354779.2:c.585_589delinsGAAAC	NP_001341708.1:n.585_589delinsGAAAC
NM_001354780.2:c.585_589delinsGAAAC	NP_001341709.1:n.585_589delinsGAAAC
NM_001354781.2:c.749_753delinsGAAAC	NP_001341710.1:n.749_753delinsGAAAC
NM_001354782.2:c.749_753delinsGAAAC	NP_001341711.1:n.749_753delinsGAAAC
NM_001354783.2:c.749_753delinsGAAAC	NP_001341712.1:n.749_753delinsGAAAC
NM_001354784.2:c.749_753delinsGAAAC	NP_001341713.1:n.749_753delinsGAAAC
NM_032991.3:c.585_589delinsGAAAC	NP_116786.1:n.585_589delinsGAAAC