Canonical Allele Identifier: CA030845

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs782682748
• ExAC: X:100656796 A / ACATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTG
• MyVariant Identifiers: chrX:g.100656796_100656797insCATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTG (hg19) ; chrX:g.101401808_101401809insCATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401809_101401810insATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGC , CM000685.2:g.101401809_101401810insATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGC	GRCh38
NC_000023.10:g.100656797_100656798insATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGC , CM000685.1:g.100656797_100656798insATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGC	GRCh37
NC_000023.9:g.100543453_100543454insATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGC	NCBI36
NG_007119.1:g.11155_11156insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG , LRG_672:g.11155_11156insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000501124.2:p.Tyr123_Val124insAlaAspProGlnArgPheProHisG...
ENST00000674127.2:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000501044.2:p.Tyr123_Val124insAlaAspProGlnArgPheProHisG...
ENST00000710365.1:c.445_446insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000518234.1:p.Tyr148_Val149insAlaAspProGlnArgPheProHisG...
ENST00000218516.4:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA) MANE Select	ENSP00000218516.4:p.Tyr123_Val124insAlaAspProGlnArgPheProHisG...
ENST00000466414.2:n.289_290insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)
ENST00000468823.2:n.431_432insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)
ENST00000479445.2:n.368_369insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)
ENST00000480513.6:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000497055.1:p.Tyr123_Val124insAlaAspProGlnArgPheProHisG...
ENST00000486121.6:c.300_301insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)
ENST00000649178.1:c.493_494insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000498186.1:p.Tyr164_Val165insAlaAspProGlnArgPheProHisG...
ENST00000674127.1:c.298_299insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000501044.1:p.Tyr99_Val100insAlaAspProGlnArgPheProHisGl...
ENST00000674142.1:n.457_458insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)
ENST00000674634.2:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000502629.2:p.Tyr123_Val124insAlaAspProGlnArgPheProHisG...
ENST00000675592.1:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000502239.1:p.Tyr123_Val124insAlaAspProGlnArgPheProHisG...
ENST00000675799.1:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000502661.1:p.Tyr123_Val124insAlaAspProGlnArgPheProHisG...
ENST00000675968.1:n.431_432insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)
ENST00000676156.1:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000501730.1:p.Tyr123_Val124insAlaAspProGlnArgPheProHisG...
ENST00000676372.1:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000502805.1:p.Tyr123_Val124insAlaAspProGlnArgPheProHisG...
ENST00000218516.3:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000218516.3:p.Tyr123_Val124insAlaAspProGlnArgPheProHisG...
ENST00000409170.3:c.300+6352_300+6353insATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6352_300+6353insATAATTAGCTAGCTGGCGAAT...
ENST00000409338.5:c.177+9987_177+9988insATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9987_177+9988insATAATTAGCTAGCTGGCGAAT...
ENST00000479445.1:n.354_355insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)
ENST00000480513.5:n.300_301insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)
ENST00000486121.5:n.300_301insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)
ENST00000493905.6:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	ENSP00000476935.1:p.Tyr123_Val124insAlaAspProGlnArgPheProHisG...
NM_000169.2:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG , LRG_672t1:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)	NP_000160.1:p.Tyr123_Val124insAlaAspProGlnArgPheProHisGlyIleA...
NM_001199973.1:c.408+6352_408+6353insATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6352_408+6353insATAATTAGCTAGCTGGCGAATCCC...
NM_001199974.1:c.285+9987_285+9988insATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9987_285+9988insATAATTAGCTAGCTGGCGAATCCC...
XR_938397.1:n.398_399insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)
XR_938397.2:n.419_420insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)
NM_001199973.2:c.300+6352_300+6353insATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6352_300+6353insATAATTAGCTAGCTGGCGAATCCC...
NM_001199974.2:c.177+9987_177+9988insATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9987_177+9988insATAATTAGCTAGCTGGCGAATCCC...
NM_000169.3:c.370_371insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA) MANE Select	NP_000160.1:p.Tyr123_Val124insAlaAspProGlnArgPheProHisGlyIleA...
NR_164783.1:n.392_393insCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAATTATG (GLA)