Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34887024_34887025insAGGAGGGAAGACGCCCAGCG , CM000683.2:g.34887024_34887025insAGGAGGGAAGACGCCCAGCG	GRCh38
NC_000021.8:g.36259321_36259322insAGGAGGGAAGACGCCCAGCG , CM000683.1:g.36259321_36259322insAGGAGGGAAGACGCCCAGCG	GRCh37
NC_000021.7:g.35181191_35181192insAGGAGGGAAGACGCCCAGCG	NCBI36
NG_011402.2:g.1102696_1102697insTCTTCCCTCCTCGCTGGGCG , LRG_482:g.1102696_1102697insTCTTCCCTCCTCGCTGGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.178_179insTCTTCCCTCCTCGCTGGGCG MANE Select	ENSP00000501943.1:p.Ala60ValfsTer19
ENST00000300305.7:c.178_179insTCTTCCCTCCTCGCTGGGCG	ENSP00000300305.3:p.Ala60ValfsTer19
ENST00000344691.8:c.97_98insTCTTCCCTCCTCGCTGGGCG	ENSP00000340690.4:p.Ala33ValfsTer19
ENST00000358356.9:c.97_98insTCTTCCCTCCTCGCTGGGCG	ENSP00000351123.5:p.Ala33ValfsTer19
ENST00000399237.6:c.142_143insTCTTCCCTCCTCGCTGGGCG	ENSP00000382182.2:p.Ala48ValfsTer19
ENST00000399240.5:c.97_98insTCTTCCCTCCTCGCTGGGCG	ENSP00000382184.1:p.Ala33ValfsTer19
ENST00000437180.5:c.178_179insTCTTCCCTCCTCGCTGGGCG	ENSP00000409227.1:p.Ala60ValfsTer19
ENST00000455571.5:c.139_140insTCTTCCCTCCTCGCTGGGCG	ENSP00000388189.1:p.Ala47ValfsTer19
ENST00000482318.5:c.59-6303_59-6302insTCTTCCCTCCTCGCTGGGCG	ENSP00000477067.1:n.59-6303_59-6302insTCTTCCCTCCTCGCTGGGCG
NM_001001890.2:c.97_98insTCTTCCCTCCTCGCTGGGCG	NP_001001890.1:p.Ala33ValfsTer19
NM_001122607.1:c.97_98insTCTTCCCTCCTCGCTGGGCG	NP_001116079.1:p.Ala33ValfsTer19
NM_001754.4:c.178_179insTCTTCCCTCCTCGCTGGGCG , LRG_482t1:c.178_179insTCTTCCCTCCTCGCTGGGCG	NP_001745.2:p.Ala60ValfsTer19
XM_005261068.3:c.142_143insTCTTCCCTCCTCGCTGGGCG	XP_005261125.1:p.Ala48ValfsTer19
XM_005261069.3:c.178_179insTCTTCCCTCCTCGCTGGGCG	XP_005261126.1:p.Ala60ValfsTer19
XM_011529766.1:c.178_179insTCTTCCCTCCTCGCTGGGCG	XP_011528068.1:p.Ala60ValfsTer19
XM_011529767.1:c.139_140insTCTTCCCTCCTCGCTGGGCG	XP_011528069.1:p.Ala47ValfsTer19
XM_011529768.1:c.139_140insTCTTCCCTCCTCGCTGGGCG	XP_011528070.1:p.Ala47ValfsTer19
XM_011529770.1:c.178_179insTCTTCCCTCCTCGCTGGGCG	XP_011528072.1:p.Ala60ValfsTer19
XR_937576.1:n.357_358insTCTTCCCTCCTCGCTGGGCG
XM_005261069.4:c.178_179insTCTTCCCTCCTCGCTGGGCG	XP_005261126.1:p.Ala60ValfsTer19
XM_011529766.2:c.178_179insTCTTCCCTCCTCGCTGGGCG	XP_011528068.1:p.Ala60ValfsTer19
XM_011529767.2:c.139_140insTCTTCCCTCCTCGCTGGGCG	XP_011528069.1:p.Ala47ValfsTer19
XM_011529768.2:c.139_140insTCTTCCCTCCTCGCTGGGCG	XP_011528070.1:p.Ala47ValfsTer19
XM_011529770.2:c.178_179insTCTTCCCTCCTCGCTGGGCG	XP_011528072.1:p.Ala60ValfsTer19
XM_017028487.1:c.25_26insTCTTCCCTCCTCGCTGGGCG	XP_016883976.1:p.Ala9ValfsTer19
XR_937576.2:n.404_405insTCTTCCCTCCTCGCTGGGCG
NM_001001890.3:c.97_98insTCTTCCCTCCTCGCTGGGCG	NP_001001890.1:p.Ala33ValfsTer19
NM_001122607.2:c.97_98insTCTTCCCTCCTCGCTGGGCG	NP_001116079.1:p.Ala33ValfsTer19
NM_001754.5:c.178_179insTCTTCCCTCCTCGCTGGGCG MANE Select	NP_001745.2:p.Ala60ValfsTer19