Canonical Allele Identifier: CA2695234877

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398004_101398016del , CM000685.2:g.101398004_101398016del	GRCh38
NC_000023.10:g.100652992_100653004del , CM000685.1:g.100652992_100653004del	GRCh37
NC_000023.9:g.100539648_100539660del	NCBI36
NG_007119.1:g.14951_14963del , LRG_672:g.14951_14963del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*532_*544del (GLA)	ENSP00000501124.2:n.*532_*544del
ENST00000674127.2:c.*589_*601del (GLA)	ENSP00000501044.2:n.*589_*601del
ENST00000710365.1:c.1161_1173del (GLA)	ENSP00000518234.1:p.Arg388SerfsTer24
ENST00000218516.4:c.1086_1098del (GLA) MANE Select	ENSP00000218516.4:p.Arg363SerfsTer24
ENST00000466414.2:n.1222_1234del (GLA)
ENST00000468823.2:n.2508_2520del (GLA)
ENST00000479445.2:n.1700_1712del (GLA)
ENST00000480513.6:c.*394_*406del (GLA)	ENSP00000497055.1:n.*394_*406del
ENST00000486121.6:c.1131_1143del (GLA)
ENST00000649178.1:c.1209_1221del (GLA)	ENSP00000498186.1:p.Arg404SerfsTer24
ENST00000674127.1:c.1186_1198del (GLA)	ENSP00000501044.1:n.1186_1198del
ENST00000674142.1:n.1390_1402del (GLA)
ENST00000675592.1:c.888_900del (GLA)	ENSP00000502239.1:p.Arg297SerfsTer24
ENST00000675799.1:c.*611_*623del (GLA)	ENSP00000502661.1:n.*611_*623del
ENST00000675968.1:n.3957_3969del (GLA)
ENST00000676156.1:c.1050_1062del (GLA)	ENSP00000501730.1:p.Arg351SerfsTer24
ENST00000676372.1:c.1152_1164del (GLA)	ENSP00000502805.1:n.1152_1164del
ENST00000218516.3:c.1086_1098del (GLA)	ENSP00000218516.3:p.Arg363SerfsTer24
ENST00000409170.3:c.300+2547_300+2559del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2547_300+2559del
ENST00000409338.5:c.177+6182_177+6194del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6182_177+6194del
ENST00000466414.1:n.412_424del (GLA)
ENST00000493905.6:c.*474_*486del (GLA)	ENSP00000476935.1:n.*474_*486del
NM_000169.2:c.1086_1098del , LRG_672t1:c.1086_1098del (GLA)	NP_000160.1:p.Arg363SerfsTer24
NM_001199973.1:c.408+2547_408+2559del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2547_408+2559del
NM_001199974.1:c.285+6182_285+6194del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6182_285+6194del
XR_938397.1:n.1171_1183del (GLA)
XR_938397.2:n.1192_1204del (GLA)
NM_001199973.2:c.300+2547_300+2559del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2547_300+2559del
NM_001199974.2:c.177+6182_177+6194del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6182_177+6194del
NM_000169.3:c.1086_1098del (GLA) MANE Select	NP_000160.1:p.Arg363SerfsTer24
NR_164783.1:n.1165_1177del (GLA)