Canonical Allele Identifier: CA2448301233

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407766_101407779delinsGTGCAGCCAGCCCA , CM000685.2:g.101407766_101407779delinsGTGCAGCCAGCCCA	GRCh38
NC_000023.10:g.100662754_100662767delinsGTGCAGCCAGCCCA , CM000685.1:g.100662754_100662767delinsGTGCAGCCAGCCCA	GRCh37
NC_000023.9:g.100549410_100549423delinsGTGCAGCCAGCCCA	NCBI36
NG_007119.1:g.5185_5198delinsTGGGCTGGCTGCAC , LRG_672:g.5185_5198delinsTGGGCTGGCTGCAC
NG_016327.1:g.4564_4577delinsGTGCAGCCAGCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000501124.2:p.Met42=
ENST00000674127.2:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000501044.2:p.Met42=
ENST00000710365.1:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000518234.1:p.Met42=
ENST00000218516.4:c.125_138delinsTGGGCTGGCTGCAC (GLA) MANE Select	ENSP00000218516.4:p.Met42=
ENST00000466414.2:n.44_57delinsTGGGCTGGCTGCAC (GLA)
ENST00000468823.2:n.186_199delinsTGGGCTGGCTGCAC (GLA)
ENST00000479445.2:n.123_136delinsTGGGCTGGCTGCAC (GLA)
ENST00000480513.6:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000497055.1:p.Met42=
ENST00000486121.6:c.55_68delinsTGGGCTGGCTGCAC (GLA)
ENST00000649178.1:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000498186.1:p.Met42=
ENST00000674127.1:c.53_66delinsTGGGCTGGCTGCAC (GLA)	ENSP00000501044.1:p.Met18=
ENST00000674142.1:n.212_225delinsTGGGCTGGCTGCAC (GLA)
ENST00000674634.2:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000502629.2:p.Met42=
ENST00000675592.1:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000502239.1:p.Met42=
ENST00000675799.1:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000502661.1:p.Met42=
ENST00000675968.1:n.186_199delinsTGGGCTGGCTGCAC (GLA)
ENST00000676156.1:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000501730.1:p.Met42=
ENST00000676372.1:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000502805.1:p.Met42=
ENST00000218516.3:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000218516.3:p.Met42=
ENST00000409170.3:c.301-4170_301-4157delinsGTGCAGCCAGCCCA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4170_301-4157delinsGTGCAGCCAGCCCA
ENST00000409338.5:c.178-4170_178-4157delinsGTGCAGCCAGCCCA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4170_178-4157delinsGTGCAGCCAGCCCA
ENST00000479445.1:n.109_122delinsTGGGCTGGCTGCAC (GLA)
ENST00000480513.5:n.55_68delinsTGGGCTGGCTGCAC (GLA)
ENST00000486121.5:n.55_68delinsTGGGCTGGCTGCAC (GLA)
ENST00000493905.6:c.125_138delinsTGGGCTGGCTGCAC (GLA)	ENSP00000476935.1:p.Met42=
NM_000169.2:c.125_138delinsTGGGCTGGCTGCAC , LRG_672t1:c.125_138delinsTGGGCTGGCTGCAC (GLA)	NP_000160.1:p.Met42=
NM_001199973.1:c.409-4170_409-4157delinsGTGCAGCCAGCCCA (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4170_409-4157delinsGTGCAGCCAGCCCA
NM_001199974.1:c.286-4170_286-4157delinsGTGCAGCCAGCCCA (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4170_286-4157delinsGTGCAGCCAGCCCA
XR_938397.1:n.153_166delinsTGGGCTGGCTGCAC (GLA)
XR_938397.2:n.174_187delinsTGGGCTGGCTGCAC (GLA)
NM_001199973.2:c.301-4170_301-4157delinsGTGCAGCCAGCCCA (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4170_301-4157delinsGTGCAGCCAGCCCA
NM_001199974.2:c.178-4170_178-4157delinsGTGCAGCCAGCCCA (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4170_178-4157delinsGTGCAGCCAGCCCA
NM_000169.3:c.125_138delinsTGGGCTGGCTGCAC (GLA) MANE Select	NP_000160.1:p.Met42=
NR_164783.1:n.147_160delinsTGGGCTGGCTGCAC (GLA)