Canonical Allele Identifier: CA2695234933

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398844_101398845del , CM000685.2:g.101398844_101398845del	GRCh38
NC_000023.10:g.100653832_100653833del , CM000685.1:g.100653832_100653833del	GRCh37
NC_000023.9:g.100540488_100540489del	NCBI36
NG_007119.1:g.14121_14122del , LRG_672:g.14121_14122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*189_*190del (GLA)	ENSP00000501124.2:n.*189_*190del
ENST00000674127.2:c.*246_*247del (GLA)	ENSP00000501044.2:n.*246_*247del
ENST00000710365.1:c.818_819del (GLA)	ENSP00000518234.1:p.Phe273Ter
ENST00000218516.4:c.743_744del (GLA) MANE Select	ENSP00000218516.4:p.Phe248Ter
ENST00000466414.2:n.662_663del (GLA)
ENST00000468823.2:n.1678_1679del (GLA)
ENST00000479445.2:n.1140_1141del (GLA)
ENST00000480513.6:c.*51_*52del (GLA)	ENSP00000497055.1:n.*51_*52del
ENST00000486121.6:c.788_789del (GLA)
ENST00000649178.1:c.866_867del (GLA)	ENSP00000498186.1:p.Phe289Ter
ENST00000674127.1:c.843_844del (GLA)	ENSP00000501044.1:n.843_844del
ENST00000674142.1:n.830_831del (GLA)
ENST00000674634.2:c.743_744del (GLA)	ENSP00000502629.2:p.Phe248Ter
ENST00000675592.1:c.743_744del (GLA)	ENSP00000502239.1:p.Phe248Ter
ENST00000675799.1:c.*51_*52del (GLA)	ENSP00000502661.1:n.*51_*52del
ENST00000675968.1:n.3397_3398del (GLA)
ENST00000676156.1:c.707_708del (GLA)	ENSP00000501730.1:p.Phe236Ter
ENST00000676372.1:c.743_744del (GLA)	ENSP00000502805.1:p.Phe248Ter
ENST00000218516.3:c.743_744del (GLA)	ENSP00000218516.3:p.Phe248Ter
ENST00000409170.3:c.300+3387_300+3388del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3387_300+3388del
ENST00000409338.5:c.177+7022_177+7023del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7022_177+7023del
ENST00000468823.1:n.292_293del (GLA)
ENST00000480513.5:n.581_582del (GLA)
ENST00000493905.6:c.*131_*132del (GLA)	ENSP00000476935.1:n.*131_*132del
NM_000169.2:c.743_744del , LRG_672t1:c.743_744del (GLA)	NP_000160.1:p.Phe248Ter
NM_001199973.1:c.408+3387_408+3388del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3387_408+3388del
NM_001199974.1:c.285+7022_285+7023del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7022_285+7023del
XR_938397.1:n.828_829del (GLA)
XR_938397.2:n.849_850del (GLA)
NM_001199973.2:c.300+3387_300+3388del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3387_300+3388del
NM_001199974.2:c.177+7022_177+7023del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7022_177+7023del
NM_000169.3:c.743_744del (GLA) MANE Select	NP_000160.1:p.Phe248Ter
NR_164783.1:n.822_823del (GLA)