Canonical Allele Identifier: CA2448299193

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1928327532

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401781del , CM000685.2:g.101401781del	GRCh38
NC_000023.10:g.100656769del , CM000685.1:g.100656769del	GRCh37
NC_000023.9:g.100543425del	NCBI36
NG_007119.1:g.11185del , LRG_672:g.11185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.400del (GLA)	ENSP00000501124.2:p.Tyr134MetfsTer?
ENST00000674127.2:c.400del (GLA)	ENSP00000501044.2:p.Tyr134MetfsTer?
ENST00000710365.1:c.475del (GLA)	ENSP00000518234.1:p.Tyr159MetfsTer?
ENST00000218516.4:c.400del (GLA) MANE Select	ENSP00000218516.4:p.Tyr134MetfsTer?
ENST00000466414.2:n.319del (GLA)
ENST00000468823.2:n.461del (GLA)
ENST00000479445.2:n.398del (GLA)
ENST00000480513.6:c.400del (GLA)	ENSP00000497055.1:p.Tyr134MetfsTer?
ENST00000486121.6:c.330del (GLA)
ENST00000649178.1:c.523del (GLA)	ENSP00000498186.1:p.Tyr175MetfsTer?
ENST00000674127.1:c.328del (GLA)	ENSP00000501044.1:p.Tyr110MetfsTer?
ENST00000674142.1:n.487del (GLA)
ENST00000674634.2:c.400del (GLA)	ENSP00000502629.2:p.Tyr134MetfsTer?
ENST00000675592.1:c.400del (GLA)	ENSP00000502239.1:p.Tyr134MetfsTer?
ENST00000675799.1:c.400del (GLA)	ENSP00000502661.1:p.Tyr134MetfsTer?
ENST00000675968.1:n.461del (GLA)
ENST00000676156.1:c.400del (GLA)	ENSP00000501730.1:p.Tyr134MetfsTer?
ENST00000676372.1:c.400del (GLA)	ENSP00000502805.1:p.Tyr134MetfsTer?
ENST00000218516.3:c.400del (GLA)	ENSP00000218516.3:p.Tyr134MetfsTer?
ENST00000409170.3:c.300+6324del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6324del
ENST00000409338.5:c.177+9959del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9959del
ENST00000479445.1:n.384del (GLA)
ENST00000480513.5:n.330del (GLA)
ENST00000486121.5:n.330del (GLA)
ENST00000493905.6:c.400del (GLA)	ENSP00000476935.1:p.Tyr134MetfsTer?
NM_000169.2:c.400del , LRG_672t1:c.400del (GLA)	NP_000160.1:p.Tyr134MetfsTer?
NM_001199973.1:c.408+6324del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6324del
NM_001199974.1:c.285+9959del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9959del
XR_938397.1:n.428del (GLA)
XR_938397.2:n.449del (GLA)
NM_001199973.2:c.300+6324del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6324del
NM_001199974.2:c.177+9959del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9959del
NM_000169.3:c.400del (GLA) MANE Select	NP_000160.1:p.Tyr134MetfsTer?
NR_164783.1:n.422del (GLA)