Canonical Allele Identifier: CA2695234907

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398451_101398460del , CM000685.2:g.101398451_101398460del	GRCh38
NC_000023.10:g.100653439_100653448del , CM000685.1:g.100653439_100653448del	GRCh37
NC_000023.9:g.100540095_100540104del	NCBI36
NG_007119.1:g.14504_14513del , LRG_672:g.14504_14513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*355_*364del (GLA)	ENSP00000501124.2:n.*355_*364del
ENST00000674127.2:c.*412_*421del (GLA)	ENSP00000501044.2:n.*412_*421del
ENST00000710365.1:c.984_993del (GLA)	ENSP00000518234.1:p.Ile328MetfsTer11
ENST00000218516.4:c.909_918del (GLA) MANE Select	ENSP00000218516.4:p.Ile303MetfsTer11
ENST00000466414.2:n.1045_1054del (GLA)
ENST00000468823.2:n.2061_2070del (GLA)
ENST00000479445.2:n.1523_1532del (GLA)
ENST00000480513.6:c.*217_*226del (GLA)	ENSP00000497055.1:n.*217_*226del
ENST00000486121.6:c.954_963del (GLA)
ENST00000649178.1:c.1032_1041del (GLA)	ENSP00000498186.1:p.Ile344MetfsTer11
ENST00000674127.1:c.1009_1018del (GLA)	ENSP00000501044.1:n.1009_1018del
ENST00000674142.1:n.1213_1222del (GLA)
ENST00000674634.2:c.909_918del (GLA)	ENSP00000502629.2:p.Ile303MetfsTer11
ENST00000675592.1:c.801+325_801+334del (GLA)	ENSP00000502239.1:n.801+325_801+334del
ENST00000675799.1:c.*434_*443del (GLA)	ENSP00000502661.1:n.*434_*443del
ENST00000675968.1:n.3780_3789del (GLA)
ENST00000676156.1:c.873_882del (GLA)	ENSP00000501730.1:p.Ile291MetfsTer11
ENST00000676372.1:c.975_984del (GLA)	ENSP00000502805.1:n.975_984del
ENST00000218516.3:c.909_918del (GLA)	ENSP00000218516.3:p.Ile303MetfsTer11
ENST00000409170.3:c.300+2994_300+3003del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2994_300+3003del
ENST00000409338.5:c.177+6629_177+6638del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6629_177+6638del
ENST00000466414.1:n.235_244del (GLA)
ENST00000493905.6:c.*297_*306del (GLA)	ENSP00000476935.1:n.*297_*306del
NM_000169.2:c.909_918del , LRG_672t1:c.909_918del (GLA)	NP_000160.1:p.Ile303MetfsTer11
NM_001199973.1:c.408+2994_408+3003del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2994_408+3003del
NM_001199974.1:c.285+6629_285+6638del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6629_285+6638del
XR_938397.1:n.994_1003del (GLA)
XR_938397.2:n.1015_1024del (GLA)
NM_001199973.2:c.300+2994_300+3003del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2994_300+3003del
NM_001199974.2:c.177+6629_177+6638del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6629_177+6638del
NM_000169.3:c.909_918del (GLA) MANE Select	NP_000160.1:p.Ile303MetfsTer11
NR_164783.1:n.988_997del (GLA)