Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398372_101406489dup , CM000685.2:g.101398372_101406489dup	GRCh38
NC_000023.10:g.100653360_100661477dup , CM000685.1:g.100653360_100661477dup	GRCh37
NC_000023.9:g.100540016_100548133dup	NCBI36
NG_007119.1:g.6476_14593dup , LRG_672:g.6476_14593dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.194+1222_*444dup (GLA)
ENST00000674127.2:c.194+1222_*501dup (GLA)
ENST00000710365.1:c.194+1222_1073dup (GLA)
ENST00000218516.4:c.194+1222_998dup (GLA)
ENST00000466414.2:n.113+1222_1134dup (GLA)
ENST00000468823.2:n.255+1222_2150dup (GLA)
ENST00000479445.2:n.192+1222_1612dup (GLA)
ENST00000480513.6:c.194+1222_*306dup (GLA)
ENST00000486121.6:c.124+1222_1043dup (GLA)
ENST00000649178.1:c.194+1222_1121dup (GLA)
ENST00000674127.1:c.122+1222_1098dup (GLA)
ENST00000674142.1:n.281+1222_1302dup (GLA)
ENST00000674634.2:c.194+1222_998dup (GLA)
ENST00000675592.1:c.194+1222_802-272dup (GLA)
ENST00000675799.1:c.194+1222_*523dup (GLA)
ENST00000675968.1:n.255+1222_3869dup (GLA)
ENST00000676156.1:c.194+1222_962dup (GLA)
ENST00000676372.1:c.194+1222_1064dup (GLA)
ENST00000218516.3:c.194+1222_998dup (GLA)
ENST00000409170.3:c.300+2915_301-5447dup (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2915_301-5447dup
ENST00000409338.5:c.177+6550_178-5447dup (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6550_178-5447dup
ENST00000493905.6:c.194+1222_*386dup (GLA)
NM_000169.2:c.194+1222_998dup , LRG_672t1:c.194+1222_998dup (GLA)
NM_001199973.1:c.408+2915_409-5447dup (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2915_409-5447dup
NM_001199974.1:c.285+6550_286-5447dup (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6550_286-5447dup
XR_938397.1:n.222+1222_1083dup (GLA)
XR_938397.2:n.243+1222_1104dup (GLA)
NM_001199973.2:c.300+2915_301-5447dup (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2915_301-5447dup
NM_001199974.2:c.177+6550_178-5447dup (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6550_178-5447dup
NM_000169.3:c.194+1222_998dup (GLA)
NR_164783.1:n.216+1222_1077dup (GLA)