Canonical Allele Identifier: CA2448298021

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398488_101398490delinsAAA , CM000685.2:g.101398488_101398490delinsAAA	GRCh38
NC_000023.10:g.100653476_100653478delinsAAA , CM000685.1:g.100653476_100653478delinsAAA	GRCh37
NC_000023.9:g.100540132_100540134delinsAAA	NCBI36
NG_007119.1:g.14474_14476delinsTTT , LRG_672:g.14474_14476delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*325_*327delinsTTT (GLA)	ENSP00000501124.2:n.*325_*327delinsTTT
ENST00000674127.2:c.*382_*384delinsTTT (GLA)	ENSP00000501044.2:n.*382_*384delinsTTT
ENST00000710365.1:c.954_956delinsTTT (GLA)	ENSP00000518234.1:p.Pro318=
ENST00000218516.4:c.879_881delinsTTT (GLA) MANE Select	ENSP00000218516.4:p.Pro293=
ENST00000466414.2:n.1015_1017delinsTTT (GLA)
ENST00000468823.2:n.2031_2033delinsTTT (GLA)
ENST00000479445.2:n.1493_1495delinsTTT (GLA)
ENST00000480513.6:c.*187_*189delinsTTT (GLA)	ENSP00000497055.1:n.*187_*189delinsTTT
ENST00000486121.6:c.924_926delinsTTT (GLA)
ENST00000649178.1:c.1002_1004delinsTTT (GLA)	ENSP00000498186.1:p.Pro334=
ENST00000674127.1:c.979_981delinsTTT (GLA)	ENSP00000501044.1:n.979_981delinsTTT
ENST00000674142.1:n.1183_1185delinsTTT (GLA)
ENST00000674634.2:c.879_881delinsTTT (GLA)	ENSP00000502629.2:p.Pro293=
ENST00000675592.1:c.801+295_801+297delinsTTT (GLA)	ENSP00000502239.1:n.801+295_801+297delinsTTT
ENST00000675799.1:c.*404_*406delinsTTT (GLA)	ENSP00000502661.1:n.*404_*406delinsTTT
ENST00000675968.1:n.3750_3752delinsTTT (GLA)
ENST00000676156.1:c.843_845delinsTTT (GLA)	ENSP00000501730.1:p.Pro281=
ENST00000676372.1:c.945_947delinsTTT (GLA)	ENSP00000502805.1:n.945_947delinsTTT
ENST00000218516.3:c.879_881delinsTTT (GLA)	ENSP00000218516.3:p.Pro293=
ENST00000409170.3:c.300+3031_300+3033delinsAAA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3031_300+3033delinsAAA
ENST00000409338.5:c.177+6666_177+6668delinsAAA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6666_177+6668delinsAAA
ENST00000466414.1:n.205_207delinsTTT (GLA)
ENST00000493905.6:c.*267_*269delinsTTT (GLA)	ENSP00000476935.1:n.*267_*269delinsTTT
NM_000169.2:c.879_881delinsTTT , LRG_672t1:c.879_881delinsTTT (GLA)	NP_000160.1:p.Pro293=
NM_001199973.1:c.408+3031_408+3033delinsAAA (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3031_408+3033delinsAAA
NM_001199974.1:c.285+6666_285+6668delinsAAA (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6666_285+6668delinsAAA
XR_938397.1:n.964_966delinsTTT (GLA)
XR_938397.2:n.985_987delinsTTT (GLA)
NM_001199973.2:c.300+3031_300+3033delinsAAA (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3031_300+3033delinsAAA
NM_001199974.2:c.177+6666_177+6668delinsAAA (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6666_177+6668delinsAAA
NM_000169.3:c.879_881delinsTTT (GLA) MANE Select	NP_000160.1:p.Pro293=
NR_164783.1:n.958_960delinsTTT (GLA)