Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44413829_44413833dup , CM000682.2:g.44413829_44413833dup	GRCh38
NC_000020.10:g.43042469_43042473dup , CM000682.1:g.43042469_43042473dup	GRCh37
NC_000020.9:g.42475883_42475887dup	NCBI36
NG_009818.1:g.63029_63033dup , LRG_483:g.63029_63033dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.426+29_426+33dup MANE Select	ENSP00000315180.4:n.426+29_426+33dup
ENST00000316099.10:c.492+29_492+33dup	ENSP00000312987.3:n.492+29_492+33dup
ENST00000619550.5:c.466+29_466+33dup
ENST00000683148.1:n.468+29_468+33dup
ENST00000683657.1:n.1616+29_1616+33dup
ENST00000316099.9:c.492+29_492+33dup	ENSP00000312987.3:n.492+29_492+33dup
ENST00000316099.8:c.492+29_492+33dup	ENSP00000312987.3:n.492+29_492+33dup
ENST00000316673.8:c.426+29_426+33dup	ENSP00000315180.4:n.426+29_426+33dup
ENST00000372920.1:c.259+29_259+33dup	ENSP00000362011.1:n.259+29_259+33dup
ENST00000415691.2:c.492+29_492+33dup	ENSP00000412111.1:n.492+29_492+33dup
ENST00000443598.6:c.492+29_492+33dup	ENSP00000410911.2:n.492+29_492+33dup
ENST00000457232.5:c.426+29_426+33dup	ENSP00000396216.1:n.426+29_426+33dup
ENST00000609795.5:c.426+29_426+33dup	ENSP00000476609.1:n.426+29_426+33dup
ENST00000619550.4:c.417+29_417+33dup	ENSP00000481331.1:n.417+29_417+33dup
NM_000457.4:c.492+29_492+33dup , LRG_483t2:c.492+29_492+33dup	NP_000448.3:n.492+29_492+33dup
NM_001030003.2:c.426+29_426+33dup	NP_001025174.1:n.426+29_426+33dup
NM_001030004.2:c.426+29_426+33dup	NP_001025175.1:n.426+29_426+33dup
NM_001258355.1:c.471+29_471+33dup	NP_001245284.1:n.471+29_471+33dup
NM_001287182.1:c.417+29_417+33dup	NP_001274111.1:n.417+29_417+33dup
NM_001287183.1:c.417+29_417+33dup , LRG_483t3:c.417+29_417+33dup	NP_001274112.1:n.417+29_417+33dup
NM_001287184.1:c.417+29_417+33dup	NP_001274113.1:n.417+29_417+33dup
NM_175914.4:c.426+29_426+33dup , LRG_483t1:c.426+29_426+33dup	NP_787110.2:n.426+29_426+33dup
NM_178849.2:c.492+29_492+33dup	NP_849180.1:n.492+29_492+33dup
NM_178850.2:c.492+29_492+33dup	NP_849181.1:n.492+29_492+33dup
XM_005260407.2:c.609+29_609+33dup	XP_005260464.1:n.609+29_609+33dup
XM_011528797.1:c.540+29_540+33dup	XP_011527099.1:n.540+29_540+33dup
XM_011528798.1:c.540+29_540+33dup	XP_011527100.1:n.540+29_540+33dup
XM_005260407.4:c.609+29_609+33dup	XP_005260464.1:n.609+29_609+33dup
NM_001030003.3:c.426+29_426+33dup	NP_001025174.1:n.426+29_426+33dup
NM_001030004.3:c.426+29_426+33dup	NP_001025175.1:n.426+29_426+33dup
NM_001258355.2:c.471+29_471+33dup	NP_001245284.1:n.471+29_471+33dup
NM_001287182.2:c.417+29_417+33dup	NP_001274111.1:n.417+29_417+33dup
NM_001287184.2:c.417+29_417+33dup	NP_001274113.1:n.417+29_417+33dup
NM_178849.3:c.492+29_492+33dup	NP_849180.1:n.492+29_492+33dup
NM_178850.3:c.492+29_492+33dup	NP_849181.1:n.492+29_492+33dup
NM_000457.5:c.492+29_492+33dup	NP_000448.3:n.492+29_492+33dup
NM_000457.6:c.492+29_492+33dup	NP_000448.3:n.492+29_492+33dup
NM_001287183.2:c.417+29_417+33dup	NP_001274112.1:n.417+29_417+33dup
NM_175914.5:c.426+29_426+33dup MANE Select	NP_787110.2:n.426+29_426+33dup