Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184627760_184627762delinsTCA , CM000666.2:g.184627760_184627762delinsTCA	GRCh38
NC_000004.11:g.185548914_185548916delinsTCA , CM000666.1:g.185548914_185548916delinsTCA	GRCh37
NC_000004.10:g.185785908_185785910delinsTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000700100.1:c.1510_1512delinsTGA	ENSP00000514797.1:n.1510_1512delinsTGA
ENST00000700101.1:c.1510_1512delinsTGA	ENSP00000514798.1:n.1510_1512delinsTGA
ENST00000700102.1:n.3947_3949delinsTGA
ENST00000700103.1:n.5309_5311delinsTGA
ENST00000700104.1:c.2093_2095delinsTGA	ENSP00000514799.1:n.2093_2095delinsTGA
ENST00000308394.9:c.1510_1512delinsTGA MANE Select	ENSP00000311032.4:n.1510_1512delinsTGA
ENST00000308394.8:c.1510_1512delinsTGA	ENSP00000311032.4:n.1510_1512delinsTGA
ENST00000393585.6:c.1674_1676delinsTGA	ENSP00000377210.2:n.1674_1676delinsTGA
ENST00000523916.5:c.1510_1512delinsTGA	ENSP00000428929.1:n.1510_1512delinsTGA
ENST00000613118.4:c.1777_1779delinsTGA	ENSP00000478339.1:n.1777_1779delinsTGA
NM_004346.3:c.1510_1512delinsTGA	NP_004337.2:n.1510_1512delinsTGA
NM_032991.2:c.1510_1512delinsTGA	NP_116786.1:n.1510_1512delinsTGA
XM_011532301.1:c.1510_1512delinsTGA	XP_011530603.1:n.1510_1512delinsTGA
NM_001354777.1:c.1510_1512delinsTGA	NP_001341706.1:n.1510_1512delinsTGA
NM_001354779.1:c.1510_1512delinsTGA	NP_001341708.1:n.1510_1512delinsTGA
NM_001354780.1:c.1510_1512delinsTGA	NP_001341709.1:n.1510_1512delinsTGA
NM_001354781.1:c.1674_1676delinsTGA	NP_001341710.1:n.1674_1676delinsTGA
NM_001354782.1:c.1674_1676delinsTGA	NP_001341711.1:n.1674_1676delinsTGA
NM_001354783.1:c.1674_1676delinsTGA	NP_001341712.1:n.1674_1676delinsTGA
NM_001354784.1:c.1674_1676delinsTGA	NP_001341713.1:n.1674_1676delinsTGA
NM_004346.4:c.1510_1512delinsTGA MANE Select	NP_004337.2:n.1510_1512delinsTGA
NM_001354777.2:c.1510_1512delinsTGA	NP_001341706.1:n.1510_1512delinsTGA
NM_001354779.2:c.1510_1512delinsTGA	NP_001341708.1:n.1510_1512delinsTGA
NM_001354780.2:c.1510_1512delinsTGA	NP_001341709.1:n.1510_1512delinsTGA
NM_001354781.2:c.1674_1676delinsTGA	NP_001341710.1:n.1674_1676delinsTGA
NM_001354782.2:c.1674_1676delinsTGA	NP_001341711.1:n.1674_1676delinsTGA
NM_001354783.2:c.1674_1676delinsTGA	NP_001341712.1:n.1674_1676delinsTGA
NM_001354784.2:c.1674_1676delinsTGA	NP_001341713.1:n.1674_1676delinsTGA
NM_032991.3:c.1510_1512delinsTGA	NP_116786.1:n.1510_1512delinsTGA

HGVS	Amino-acid change
ENST00000700100.1:c.1510_1512delinsTGA	ENSP00000514797.1:n.1510_1512delinsTGA
ENST00000700101.1:c.1510_1512delinsTGA	ENSP00000514798.1:n.1510_1512delinsTGA
ENST00000700102.1:n.3947_3949delinsTGA
ENST00000700103.1:n.5309_5311delinsTGA
ENST00000700104.1:c.2093_2095delinsTGA	ENSP00000514799.1:n.2093_2095delinsTGA
ENST00000308394.9:c.1510_1512delinsTGA MANE Select	ENSP00000311032.4:n.1510_1512delinsTGA
ENST00000308394.8:c.1510_1512delinsTGA	ENSP00000311032.4:n.1510_1512delinsTGA
ENST00000393585.6:c.1674_1676delinsTGA	ENSP00000377210.2:n.1674_1676delinsTGA
ENST00000523916.5:c.1510_1512delinsTGA	ENSP00000428929.1:n.1510_1512delinsTGA
ENST00000613118.4:c.1777_1779delinsTGA	ENSP00000478339.1:n.1777_1779delinsTGA
NM_004346.3:c.1510_1512delinsTGA	NP_004337.2:n.1510_1512delinsTGA
NM_032991.2:c.1510_1512delinsTGA	NP_116786.1:n.1510_1512delinsTGA
XM_011532301.1:c.1510_1512delinsTGA	XP_011530603.1:n.1510_1512delinsTGA
NM_001354777.1:c.1510_1512delinsTGA	NP_001341706.1:n.1510_1512delinsTGA
NM_001354779.1:c.1510_1512delinsTGA	NP_001341708.1:n.1510_1512delinsTGA
NM_001354780.1:c.1510_1512delinsTGA	NP_001341709.1:n.1510_1512delinsTGA
NM_001354781.1:c.1674_1676delinsTGA	NP_001341710.1:n.1674_1676delinsTGA
NM_001354782.1:c.1674_1676delinsTGA	NP_001341711.1:n.1674_1676delinsTGA
NM_001354783.1:c.1674_1676delinsTGA	NP_001341712.1:n.1674_1676delinsTGA
NM_001354784.1:c.1674_1676delinsTGA	NP_001341713.1:n.1674_1676delinsTGA
NM_004346.4:c.1510_1512delinsTGA MANE Select	NP_004337.2:n.1510_1512delinsTGA
NM_001354777.2:c.1510_1512delinsTGA	NP_001341706.1:n.1510_1512delinsTGA
NM_001354779.2:c.1510_1512delinsTGA	NP_001341708.1:n.1510_1512delinsTGA
NM_001354780.2:c.1510_1512delinsTGA	NP_001341709.1:n.1510_1512delinsTGA
NM_001354781.2:c.1674_1676delinsTGA	NP_001341710.1:n.1674_1676delinsTGA
NM_001354782.2:c.1674_1676delinsTGA	NP_001341711.1:n.1674_1676delinsTGA
NM_001354783.2:c.1674_1676delinsTGA	NP_001341712.1:n.1674_1676delinsTGA
NM_001354784.2:c.1674_1676delinsTGA	NP_001341713.1:n.1674_1676delinsTGA
NM_032991.3:c.1510_1512delinsTGA	NP_116786.1:n.1510_1512delinsTGA