Canonical Allele Identifier: CA2579664571

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397970_101397971del , CM000685.2:g.101397970_101397971del	GRCh38
NC_000023.10:g.100652958_100652959del , CM000685.1:g.100652958_100652959del	GRCh37
NC_000023.9:g.100539614_100539615del	NCBI36
NG_007119.1:g.14993_14994del , LRG_672:g.14993_14994del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*574_*575del (GLA)	ENSP00000501124.2:n.*574_*575del
ENST00000674127.2:c.*631_*632del (GLA)	ENSP00000501044.2:n.*631_*632del
ENST00000710365.1:c.1203_1204del (GLA)	ENSP00000518234.1:p.Ala402LeufsTer2
ENST00000218516.4:c.1128_1129del (GLA) MANE Select	ENSP00000218516.4:p.Ala377LeufsTer2
ENST00000466414.2:n.1264_1265del (GLA)
ENST00000468823.2:n.2550_2551del (GLA)
ENST00000479445.2:n.1742_1743del (GLA)
ENST00000480513.6:c.*436_*437del (GLA)	ENSP00000497055.1:n.*436_*437del
ENST00000486121.6:c.1173_1174del (GLA)
ENST00000649178.1:c.1251_1252del (GLA)	ENSP00000498186.1:p.Ala418LeufsTer2
ENST00000674127.1:c.1228_1229del (GLA)	ENSP00000501044.1:n.1228_1229del
ENST00000674142.1:n.1421+11_1421+12del (GLA)
ENST00000675592.1:c.930_931del (GLA)	ENSP00000502239.1:p.Ala311LeufsTer2
ENST00000675799.1:c.*653_*654del (GLA)	ENSP00000502661.1:n.*653_*654del
ENST00000675968.1:n.3999_4000del (GLA)
ENST00000676156.1:c.1092_1093del (GLA)	ENSP00000501730.1:p.Ala365LeufsTer2
ENST00000676372.1:c.1194_1195del (GLA)	ENSP00000502805.1:n.1194_1195del
ENST00000218516.3:c.1128_1129del (GLA)	ENSP00000218516.3:p.Ala377LeufsTer2
ENST00000409170.3:c.300+2513_300+2514del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2513_300+2514del
ENST00000409338.5:c.177+6148_177+6149del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6148_177+6149del
ENST00000466414.1:n.454_455del (GLA)
ENST00000493905.6:c.*516_*517del (GLA)	ENSP00000476935.1:n.*516_*517del
NM_000169.2:c.1128_1129del , LRG_672t1:c.1128_1129del (GLA)	NP_000160.1:p.Ala377LeufsTer2
NM_001199973.1:c.408+2513_408+2514del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2513_408+2514del
NM_001199974.1:c.285+6148_285+6149del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6148_285+6149del
XR_938397.1:n.1213_1214del (GLA)
XR_938397.2:n.1234_1235del (GLA)
NM_001199973.2:c.300+2513_300+2514del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2513_300+2514del
NM_001199974.2:c.177+6148_177+6149del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6148_177+6149del
NM_000169.3:c.1128_1129del (GLA) MANE Select	NP_000160.1:p.Ala377LeufsTer2
NR_164783.1:n.1207_1208del (GLA)