Canonical Allele Identifier: CA913190392

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 593549
• ClinVar RCV Id: RCV000728628 ; RCV003387920
• dbSNP Id: rs1569306036

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407733_101407740delinsTAGGCAGA , CM000685.2:g.101407733_101407740delinsTAGGCAGA	GRCh38
NC_000023.10:g.100662721_100662728delinsTAGGCAGA , CM000685.1:g.100662721_100662728delinsTAGGCAGA	GRCh37
NC_000023.9:g.100549377_100549384delinsTAGGCAGA	NCBI36
NG_007119.1:g.5224_5231delinsTCTGCCTA , LRG_672:g.5224_5231delinsTCTGCCTA
NG_016327.1:g.4531_4538delinsTAGGCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.164_171delinsTCTGCCTA (GLA)	ENSP00000501124.2:p.Asp55_Gln57delinsValCysLeu
ENST00000674127.2:c.164_171delinsTCTGCCTA (GLA)	ENSP00000501044.2:p.Asp55_Gln57delinsValCysLeu
ENST00000710365.1:c.164_171delinsTCTGCCTA (GLA)	ENSP00000518234.1:p.Asp55_Gln57delinsValCysLeu
ENST00000218516.4:c.164_171delinsTCTGCCTA (GLA) MANE Select	ENSP00000218516.4:p.Asp55_Gln57delinsValCysLeu
ENST00000466414.2:n.83_90delinsTCTGCCTA (GLA)
ENST00000468823.2:n.225_232delinsTCTGCCTA (GLA)
ENST00000479445.2:n.162_169delinsTCTGCCTA (GLA)
ENST00000480513.6:c.164_171delinsTCTGCCTA (GLA)	ENSP00000497055.1:p.Asp55_Gln57delinsValCysLeu
ENST00000486121.6:c.94_101delinsTCTGCCTA (GLA)
ENST00000649178.1:c.164_171delinsTCTGCCTA (GLA)	ENSP00000498186.1:p.Asp55_Gln57delinsValCysLeu
ENST00000674127.1:c.92_99delinsTCTGCCTA (GLA)	ENSP00000501044.1:p.Asp31_Gln33delinsValCysLeu
ENST00000674142.1:n.251_258delinsTCTGCCTA (GLA)
ENST00000674634.2:c.164_171delinsTCTGCCTA (GLA)	ENSP00000502629.2:p.Asp55_Gln57delinsValCysLeu
ENST00000675592.1:c.164_171delinsTCTGCCTA (GLA)	ENSP00000502239.1:p.Asp55_Gln57delinsValCysLeu
ENST00000675799.1:c.164_171delinsTCTGCCTA (GLA)	ENSP00000502661.1:p.Asp55_Gln57delinsValCysLeu
ENST00000675968.1:n.225_232delinsTCTGCCTA (GLA)
ENST00000676156.1:c.164_171delinsTCTGCCTA (GLA)	ENSP00000501730.1:p.Asp55_Gln57delinsValCysLeu
ENST00000676372.1:c.164_171delinsTCTGCCTA (GLA)	ENSP00000502805.1:p.Asp55_Gln57delinsValCysLeu
ENST00000218516.3:c.164_171delinsTCTGCCTA (GLA)	ENSP00000218516.3:p.Asp55_Gln57delinsValCysLeu
ENST00000409170.3:c.301-4203_301-4196delinsTAGGCAGA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4203_301-4196delinsTAGGCAGA
ENST00000409338.5:c.178-4203_178-4196delinsTAGGCAGA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4203_178-4196delinsTAGGCAGA
ENST00000479445.1:n.148_155delinsTCTGCCTA (GLA)
ENST00000480513.5:n.94_101delinsTCTGCCTA (GLA)
ENST00000486121.5:n.94_101delinsTCTGCCTA (GLA)
ENST00000493905.6:c.164_171delinsTCTGCCTA (GLA)	ENSP00000476935.1:p.Asp55_Gln57delinsValCysLeu
NM_000169.2:c.164_171delinsTCTGCCTA , LRG_672t1:c.164_171delinsTCTGCCTA (GLA)	NP_000160.1:p.Asp55_Gln57delinsValCysLeu
NM_001199973.1:c.409-4203_409-4196delinsTAGGCAGA (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4203_409-4196delinsTAGGCAGA
NM_001199974.1:c.286-4203_286-4196delinsTAGGCAGA (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4203_286-4196delinsTAGGCAGA
XR_938397.1:n.192_199delinsTCTGCCTA (GLA)
XR_938397.2:n.213_220delinsTCTGCCTA (GLA)
NM_001199973.2:c.301-4203_301-4196delinsTAGGCAGA (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4203_301-4196delinsTAGGCAGA
NM_001199974.2:c.178-4203_178-4196delinsTAGGCAGA (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4203_178-4196delinsTAGGCAGA
NM_000169.3:c.164_171delinsTCTGCCTA (GLA) MANE Select	NP_000160.1:p.Asp55_Gln57delinsValCysLeu
NR_164783.1:n.186_193delinsTCTGCCTA (GLA)