Canonical Allele Identifier: CA913190393

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 10749
• ClinVar RCV Id: RCV000011496
• dbSNP Id: rs1603047806

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407769_101407781del , CM000685.2:g.101407769_101407781del	GRCh38
NC_000023.10:g.100662757_100662769del , CM000685.1:g.100662757_100662769del	GRCh37
NC_000023.9:g.100549413_100549425del	NCBI36
NG_007119.1:g.5185_5197del , LRG_672:g.5185_5197del
NG_016327.1:g.4567_4579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.125_137del (GLA)	ENSP00000501124.2:p.Met42ThrfsTer?
ENST00000674127.2:c.125_137del (GLA)	ENSP00000501044.2:p.Met42ThrfsTer?
ENST00000710365.1:c.125_137del (GLA)	ENSP00000518234.1:p.Met42ThrfsTer?
ENST00000218516.4:c.125_137del (GLA) MANE Select	ENSP00000218516.4:p.Met42ThrfsTer?
ENST00000466414.2:n.44_56del (GLA)
ENST00000468823.2:n.186_198del (GLA)
ENST00000479445.2:n.123_135del (GLA)
ENST00000480513.6:c.125_137del (GLA)	ENSP00000497055.1:p.Met42ThrfsTer?
ENST00000486121.6:c.55_67del (GLA)
ENST00000649178.1:c.125_137del (GLA)	ENSP00000498186.1:p.Met42ThrfsTer?
ENST00000674127.1:c.53_65del (GLA)	ENSP00000501044.1:p.Met18ThrfsTer?
ENST00000674142.1:n.212_224del (GLA)
ENST00000674634.2:c.125_137del (GLA)	ENSP00000502629.2:p.Met42ThrfsTer?
ENST00000675592.1:c.125_137del (GLA)	ENSP00000502239.1:p.Met42ThrfsTer?
ENST00000675799.1:c.125_137del (GLA)	ENSP00000502661.1:p.Met42ThrfsTer?
ENST00000675968.1:n.186_198del (GLA)
ENST00000676156.1:c.125_137del (GLA)	ENSP00000501730.1:p.Met42ThrfsTer?
ENST00000676372.1:c.125_137del (GLA)	ENSP00000502805.1:p.Met42ThrfsTer?
ENST00000218516.3:c.125_137del (GLA)	ENSP00000218516.3:p.Met42ThrfsTer?
ENST00000409170.3:c.301-4167_301-4155del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4167_301-4155del
ENST00000409338.5:c.178-4167_178-4155del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4167_178-4155del
ENST00000479445.1:n.109_121del (GLA)
ENST00000480513.5:n.55_67del (GLA)
ENST00000486121.5:n.55_67del (GLA)
ENST00000493905.6:c.125_137del (GLA)	ENSP00000476935.1:p.Met42ThrfsTer?
NM_000169.2:c.125_137del , LRG_672t1:c.125_137del (GLA)	NP_000160.1:p.Met42ThrfsTer?
NM_001199973.1:c.409-4167_409-4155del (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4167_409-4155del
NM_001199974.1:c.286-4167_286-4155del (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4167_286-4155del
XR_938397.1:n.153_165del (GLA)
XR_938397.2:n.174_186del (GLA)
NM_001199973.2:c.301-4167_301-4155del (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4167_301-4155del
NM_001199974.2:c.178-4167_178-4155del (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4167_178-4155del
NM_000169.3:c.125_137del (GLA) MANE Select	NP_000160.1:p.Met42ThrfsTer?
NR_164783.1:n.147_159del (GLA)