Canonical Allele Identifier: CA920428169

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1555984796

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397979del , CM000685.2:g.101397979del	GRCh38
NC_000023.10:g.100652967del , CM000685.1:g.100652967del	GRCh37
NC_000023.9:g.100539623del	NCBI36
NG_007119.1:g.14987del , LRG_672:g.14987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*568del (GLA)	ENSP00000501124.2:n.*568del
ENST00000674127.2:c.*625del (GLA)	ENSP00000501044.2:n.*625del
ENST00000710365.1:c.1197del (GLA)	ENSP00000518234.1:p.Gly400GlufsTer16
ENST00000218516.4:c.1122del (GLA) MANE Select	ENSP00000218516.4:p.Gly375GlufsTer16
ENST00000466414.2:n.1258del (GLA)
ENST00000468823.2:n.2544del (GLA)
ENST00000479445.2:n.1736del (GLA)
ENST00000480513.6:c.*430del (GLA)	ENSP00000497055.1:n.*430del
ENST00000486121.6:c.1167del (GLA)
ENST00000649178.1:c.1245del (GLA)	ENSP00000498186.1:p.Gly416GlufsTer16
ENST00000674127.1:c.1222del (GLA)	ENSP00000501044.1:n.1222del
ENST00000674142.1:n.1421+5del (GLA)
ENST00000675592.1:c.924del (GLA)	ENSP00000502239.1:p.Gly309GlufsTer16
ENST00000675799.1:c.*647del (GLA)	ENSP00000502661.1:n.*647del
ENST00000675968.1:n.3993del (GLA)
ENST00000676156.1:c.1086del (GLA)	ENSP00000501730.1:p.Gly363GlufsTer16
ENST00000676372.1:c.1188del (GLA)	ENSP00000502805.1:n.1188del
ENST00000218516.3:c.1122del (GLA)	ENSP00000218516.3:p.Gly375GlufsTer16
ENST00000409170.3:c.300+2522del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2522del
ENST00000409338.5:c.177+6157del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6157del
ENST00000466414.1:n.448del (GLA)
ENST00000493905.6:c.*510del (GLA)	ENSP00000476935.1:n.*510del
NM_000169.2:c.1122del , LRG_672t1:c.1122del (GLA)	NP_000160.1:p.Gly375GlufsTer16
NM_001199973.1:c.408+2522del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2522del
NM_001199974.1:c.285+6157del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6157del
XR_938397.1:n.1207del (GLA)
XR_938397.2:n.1228del (GLA)
NM_001199973.2:c.300+2522del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2522del
NM_001199974.2:c.177+6157del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6157del
NM_000169.3:c.1122del (GLA) MANE Select	NP_000160.1:p.Gly375GlufsTer16
NR_164783.1:n.1201del (GLA)