Canonical Allele Identifier: CA2822684919

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401651_101401655del , CM000685.2:g.101401651_101401655del	GRCh38
NC_000023.10:g.100656639_100656643del , CM000685.1:g.100656639_100656643del	GRCh37
NC_000023.9:g.100543295_100543299del	NCBI36
NG_007119.1:g.11309_11313del , LRG_672:g.11309_11313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.524_528del (GLA)	ENSP00000501124.2:p.Asp175ValfsTer?
ENST00000674127.2:c.524_528del (GLA)	ENSP00000501044.2:p.Asp175ValfsTer?
ENST00000710365.1:c.599_603del (GLA)	ENSP00000518234.1:p.Asp200ValfsTer9
ENST00000218516.4:c.524_528del (GLA) MANE Select	ENSP00000218516.4:p.Asp175ValfsTer9
ENST00000466414.2:n.443_447del (GLA)
ENST00000468823.2:n.585_589del (GLA)
ENST00000479445.2:n.522_526del (GLA)
ENST00000480513.6:c.524_528del (GLA)	ENSP00000497055.1:p.Asp175ValfsTer?
ENST00000486121.6:c.454_458del (GLA)
ENST00000649178.1:c.647_651del (GLA)	ENSP00000498186.1:p.Asp216ValfsTer9
ENST00000674127.1:c.452_456del (GLA)	ENSP00000501044.1:p.Asp151ValfsTer?
ENST00000674142.1:n.611_615del (GLA)
ENST00000674634.2:c.524_528del (GLA)	ENSP00000502629.2:p.Asp175ValfsTer9
ENST00000675592.1:c.524_528del (GLA)	ENSP00000502239.1:p.Asp175ValfsTer9
ENST00000675799.1:c.524_528del (GLA)	ENSP00000502661.1:p.Asp175ValfsTer?
ENST00000675968.1:n.585_589del (GLA)
ENST00000676156.1:c.511+13_511+17del (GLA)	ENSP00000501730.1:n.511+13_511+17del
ENST00000676372.1:c.524_528del (GLA)	ENSP00000502805.1:p.Asp175ValfsTer9
ENST00000218516.3:c.524_528del (GLA)	ENSP00000218516.3:p.Asp175ValfsTer9
ENST00000409170.3:c.300+6194_300+6198del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6194_300+6198del
ENST00000409338.5:c.177+9829_177+9833del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9829_177+9833del
ENST00000479445.1:n.508_512del (GLA)
ENST00000480513.5:n.454_458del (GLA)
ENST00000486121.5:n.454_458del (GLA)
ENST00000493905.6:c.524_528del (GLA)	ENSP00000476935.1:p.Asp175ValfsTer9
NM_000169.2:c.524_528del , LRG_672t1:c.524_528del (GLA)	NP_000160.1:p.Asp175ValfsTer9
NM_001199973.1:c.408+6194_408+6198del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6194_408+6198del
NM_001199974.1:c.285+9829_285+9833del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9829_285+9833del
XR_938397.1:n.552_556del (GLA)
XR_938397.2:n.573_577del (GLA)
NM_001199973.2:c.300+6194_300+6198del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6194_300+6198del
NM_001199974.2:c.177+9829_177+9833del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9829_177+9833del
NM_000169.3:c.524_528del (GLA) MANE Select	NP_000160.1:p.Asp175ValfsTer9
NR_164783.1:n.546_550del (GLA)