Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401633_101401810del , CM000685.2:g.101401633_101401810del	GRCh38
NC_000023.10:g.100656621_100656798del , CM000685.1:g.100656621_100656798del	GRCh37
NC_000023.9:g.100543277_100543454del	NCBI36
NG_007119.1:g.11157_11334del , LRG_672:g.11157_11334del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.372_547+2del (GLA)
ENST00000674127.2:c.372_547+2del (GLA)
ENST00000710365.1:c.447_622+2del (GLA)
ENST00000218516.4:c.372_547+2del (GLA)
ENST00000466414.2:n.291_466+2del (GLA)
ENST00000468823.2:n.433_610del (GLA)
ENST00000479445.2:n.370_547del (GLA)
ENST00000480513.6:c.372_547+2del (GLA)
ENST00000486121.6:c.302_477+2del (GLA)
ENST00000649178.1:c.495_670+2del (GLA)
ENST00000674127.1:c.300_475+2del (GLA)
ENST00000674142.1:n.459_634+2del (GLA)
ENST00000674634.2:c.372_547+2del (GLA)
ENST00000675592.1:c.372_547+2del (GLA)
ENST00000675799.1:c.372_547+2del (GLA)
ENST00000675968.1:n.433_610del (GLA)
ENST00000676156.1:c.372_511+38del (GLA)
ENST00000676372.1:c.372_547+2del (GLA)
ENST00000218516.3:c.372_547+2del (GLA)
ENST00000409170.3:c.300+6176_300+6353del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6176_300+6353del
ENST00000409338.5:c.177+9811_177+9988del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9811_177+9988del
ENST00000479445.1:n.356_533del (GLA)
ENST00000480513.5:n.302_477+2del (GLA)
ENST00000486121.5:n.302_477+2del (GLA)
ENST00000493905.6:c.372_547+2del (GLA)
NM_000169.2:c.372_547+2del , LRG_672t1:c.372_547+2del (GLA)
NM_001199973.1:c.408+6176_408+6353del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6176_408+6353del
NM_001199974.1:c.285+9811_285+9988del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9811_285+9988del
XR_938397.1:n.400_575+2del (GLA)
XR_938397.2:n.421_596+2del (GLA)
NM_001199973.2:c.300+6176_300+6353del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6176_300+6353del
NM_001199974.2:c.177+9811_177+9988del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9811_177+9988del
NM_000169.3:c.372_547+2del (GLA)
NR_164783.1:n.394_569+2del (GLA)