Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34295432dup , CM000682.2:g.34295432dup	GRCh38
NC_000020.10:g.32883238dup , CM000682.1:g.32883238dup	GRCh37
NC_000020.9:g.32346899dup	NCBI36
NG_012630.1:g.21372dup
NG_012630.2:g.21372dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.183dup MANE Select	ENSP00000217426.2:p.Val62ArgfsTer4
ENST00000217426.6:c.183dup	ENSP00000217426.2:p.Val62ArgfsTer4
ENST00000468908.1:n.346dup
ENST00000473516.1:n.486dup
ENST00000480653.5:n.230dup
ENST00000538132.1:c.99dup	ENSP00000442820.1:p.Val34ArgfsTer4
ENST00000606061.1:n.270dup
NM_000687.2:c.183dup	NP_000678.1:p.Val62ArgfsTer4
NM_001161766.1:c.99dup	NP_001155238.1:p.Val34ArgfsTer4
XM_005260316.3:c.99dup	XP_005260373.1:p.Val34ArgfsTer4
XM_005260317.1:c.99dup	XP_005260374.1:p.Val34ArgfsTer4
XM_011528656.1:c.99dup	XP_011526958.1:p.Val34ArgfsTer4
XM_011528657.1:c.99dup	XP_011526959.1:p.Val34ArgfsTer4
XM_011528658.1:c.99dup	XP_011526960.1:p.Val34ArgfsTer4
XM_011528659.1:c.99dup	XP_011526961.1:p.Val34ArgfsTer4
XM_011528660.1:c.99dup	XP_011526962.1:p.Val34ArgfsTer4
NM_000687.3:c.183dup	NP_000678.1:p.Val62ArgfsTer4
NM_001322084.1:c.99dup	NP_001309013.1:p.Val34ArgfsTer4
NM_001322085.1:c.99dup	NP_001309014.1:p.Val34ArgfsTer4
NM_001322086.1:c.189dup	NP_001309015.1:p.Val64ArgfsTer4
NM_001362750.1:c.183dup	NP_001349679.1:p.Val62ArgfsTer4
XM_005260317.2:c.99dup	XP_005260374.1:p.Val34ArgfsTer4
XM_011528656.3:c.189dup	XP_011526958.2:p.Val64ArgfsTer4
XM_011528657.2:c.189dup	XP_011526959.2:p.Val64ArgfsTer4
XM_011528658.3:c.189dup	XP_011526960.2:p.Val64ArgfsTer4
XM_017027709.2:c.183dup	XP_016883198.1:p.Val62ArgfsTer4
XM_017027710.2:c.-242dup	XP_016883199.1:n.-242dup
NM_000687.4:c.183dup MANE Select	NP_000678.1:p.Val62ArgfsTer4
NM_001322084.2:c.99dup	NP_001309013.1:p.Val34ArgfsTer4
NM_001322085.2:c.99dup	NP_001309014.1:p.Val34ArgfsTer4
NM_001322086.2:c.189dup	NP_001309015.1:p.Val64ArgfsTer4
NM_001362750.2:c.183dup	NP_001349679.1:p.Val62ArgfsTer4
NM_001161766.2:c.99dup	NP_001155238.1:p.Val34ArgfsTer4