Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855312_102855313insTGGTGTCCACGCGTGCCACAGTAATCTCTGCGCCCAGTTTCTTTGCGAGCATACAACTTGTCATGTTGCGGCTCTCGTCGGGGGTCACCGCCACGAAGAGTTTGCATTGTTCTACGCCGATTTCTTT , CM000674.2:g.102855312_102855313insTGGTGTCCACGCGTGCCACAGTAATCTCTGCGCCCAGTTTCTTTGCGAGCATACAACTTGTCATGTTGCGGCTCTCGTCGGGGGTCACCGCCACGAAGAGTTTGCATTGTTCTACGCCGATTTCTTT	GRCh38
NC_000012.11:g.103249090_103249091insTGGTGTCCACGCGTGCCACAGTAATCTCTGCGCCCAGTTTCTTTGCGAGCATACAACTTGTCATGTTGCGGCTCTCGTCGGGGGTCACCGCCACGAAGAGTTTGCATTGTTCTACGCCGATTTCTTT , CM000674.1:g.103249090_103249091insTGGTGTCCACGCGTGCCACAGTAATCTCTGCGCCCAGTTTCTTTGCGAGCATACAACTTGTCATGTTGCGGCTCTCGTCGGGGGTCACCGCCACGAAGAGTTTGCATTGTTCTACGCCGATTTCTTT	GRCh37
NC_000012.10:g.101773220_101773221insTGGTGTCCACGCGTGCCACAGTAATCTCTGCGCCCAGTTTCTTTGCGAGCATACAACTTGTCATGTTGCGGCTCTCGTCGGGGGTCACCGCCACGAAGAGTTTGCATTGTTCTACGCCGATTTCTTT	NCBI36
NG_008690.1:g.67290_67291insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA
NG_008690.2:g.108098_108099insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA MANE Select	ENSP00000448059.1:p.Val177GlufsTer65
ENST00000307000.7:c.514_515insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA	ENSP00000303500.2:p.Val172GlufsTer65
ENST00000549111.5:n.625_626insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA
ENST00000551988.5:n.550_551insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA
ENST00000553106.5:c.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA	ENSP00000448059.1:p.Val177GlufsTer65
NM_000277.1:c.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA	NP_000268.1:p.Val177GlufsTer65
XM_011538422.1:c.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA	XP_011536724.1:p.Val177GlufsTer65
NM_000277.2:c.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA	NP_000268.1:p.Val177GlufsTer65
NM_001354304.1:c.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA	NP_001341233.1:p.Val177GlufsTer65
XM_017019370.2:c.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA	XP_016874859.1:p.Val177GlufsTer65
NM_000277.3:c.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA MANE Select	NP_000268.1:p.Val177GlufsTer65
NM_001354304.2:c.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA	NP_001341233.1:p.Val177GlufsTer65