Canonical Allele Identifier: CA2695235012

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407734_101407740delinsAGGCAGA , CM000685.2:g.101407734_101407740delinsAGGCAGA	GRCh38
NC_000023.10:g.100662722_100662728delinsAGGCAGA , CM000685.1:g.100662722_100662728delinsAGGCAGA	GRCh37
NC_000023.9:g.100549378_100549384delinsAGGCAGA	NCBI36
NG_007119.1:g.5224_5230delinsTCTGCCT , LRG_672:g.5224_5230delinsTCTGCCT
NG_016327.1:g.4532_4538delinsAGGCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.164_170delinsTCTGCCT (GLA)	ENSP00000501124.2:p.Asp55_Gln57delinsValCysLeu
ENST00000674127.2:c.164_170delinsTCTGCCT (GLA)	ENSP00000501044.2:p.Asp55_Gln57delinsValCysLeu
ENST00000710365.1:c.164_170delinsTCTGCCT (GLA)	ENSP00000518234.1:p.Asp55_Gln57delinsValCysLeu
ENST00000218516.4:c.164_170delinsTCTGCCT (GLA) MANE Select	ENSP00000218516.4:p.Asp55_Gln57delinsValCysLeu
ENST00000466414.2:n.83_89delinsTCTGCCT (GLA)
ENST00000468823.2:n.225_231delinsTCTGCCT (GLA)
ENST00000479445.2:n.162_168delinsTCTGCCT (GLA)
ENST00000480513.6:c.164_170delinsTCTGCCT (GLA)	ENSP00000497055.1:p.Asp55_Gln57delinsValCysLeu
ENST00000486121.6:c.94_100delinsTCTGCCT (GLA)
ENST00000649178.1:c.164_170delinsTCTGCCT (GLA)	ENSP00000498186.1:p.Asp55_Gln57delinsValCysLeu
ENST00000674127.1:c.92_98delinsTCTGCCT (GLA)	ENSP00000501044.1:p.Asp31_Gln33delinsValCysLeu
ENST00000674142.1:n.251_257delinsTCTGCCT (GLA)
ENST00000674634.2:c.164_170delinsTCTGCCT (GLA)	ENSP00000502629.2:p.Asp55_Gln57delinsValCysLeu
ENST00000675592.1:c.164_170delinsTCTGCCT (GLA)	ENSP00000502239.1:p.Asp55_Gln57delinsValCysLeu
ENST00000675799.1:c.164_170delinsTCTGCCT (GLA)	ENSP00000502661.1:p.Asp55_Gln57delinsValCysLeu
ENST00000675968.1:n.225_231delinsTCTGCCT (GLA)
ENST00000676156.1:c.164_170delinsTCTGCCT (GLA)	ENSP00000501730.1:p.Asp55_Gln57delinsValCysLeu
ENST00000676372.1:c.164_170delinsTCTGCCT (GLA)	ENSP00000502805.1:p.Asp55_Gln57delinsValCysLeu
ENST00000218516.3:c.164_170delinsTCTGCCT (GLA)	ENSP00000218516.3:p.Asp55_Gln57delinsValCysLeu
ENST00000409170.3:c.301-4202_301-4196delinsAGGCAGA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4202_301-4196delinsAGGCAGA
ENST00000409338.5:c.178-4202_178-4196delinsAGGCAGA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4202_178-4196delinsAGGCAGA
ENST00000479445.1:n.148_154delinsTCTGCCT (GLA)
ENST00000480513.5:n.94_100delinsTCTGCCT (GLA)
ENST00000486121.5:n.94_100delinsTCTGCCT (GLA)
ENST00000493905.6:c.164_170delinsTCTGCCT (GLA)	ENSP00000476935.1:p.Asp55_Gln57delinsValCysLeu
NM_000169.2:c.164_170delinsTCTGCCT , LRG_672t1:c.164_170delinsTCTGCCT (GLA)	NP_000160.1:p.Asp55_Gln57delinsValCysLeu
NM_001199973.1:c.409-4202_409-4196delinsAGGCAGA (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4202_409-4196delinsAGGCAGA
NM_001199974.1:c.286-4202_286-4196delinsAGGCAGA (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4202_286-4196delinsAGGCAGA
XR_938397.1:n.192_198delinsTCTGCCT (GLA)
XR_938397.2:n.213_219delinsTCTGCCT (GLA)
NM_001199973.2:c.301-4202_301-4196delinsAGGCAGA (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4202_301-4196delinsAGGCAGA
NM_001199974.2:c.178-4202_178-4196delinsAGGCAGA (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4202_178-4196delinsAGGCAGA
NM_000169.3:c.164_170delinsTCTGCCT (GLA) MANE Select	NP_000160.1:p.Asp55_Gln57delinsValCysLeu
NR_164783.1:n.186_192delinsTCTGCCT (GLA)