Canonical Allele Identifier: CA913190980

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 596584
• ClinVar RCV Id: RCV000732471 ; RCV001222307
• dbSNP Id: rs1569303213

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398809del , CM000685.2:g.101398809del	GRCh38
NC_000023.10:g.100653797del , CM000685.1:g.100653797del	GRCh37
NC_000023.9:g.100540453del	NCBI36
NG_007119.1:g.14155del , LRG_672:g.14155del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*223del (GLA)	ENSP00000501124.2:n.*223del
ENST00000674127.2:c.*280del (GLA)	ENSP00000501044.2:n.*280del
ENST00000710365.1:c.852del (GLA)	ENSP00000518234.1:p.Gly286ValfsTer8
ENST00000218516.4:c.777del (GLA) MANE Select	ENSP00000218516.4:p.Gly261ValfsTer8
ENST00000466414.2:n.696del (GLA)
ENST00000468823.2:n.1712del (GLA)
ENST00000479445.2:n.1174del (GLA)
ENST00000480513.6:c.*85del (GLA)	ENSP00000497055.1:n.*85del
ENST00000486121.6:c.822del (GLA)
ENST00000649178.1:c.900del (GLA)	ENSP00000498186.1:p.Gly302ValfsTer8
ENST00000674127.1:c.877del (GLA)	ENSP00000501044.1:n.877del
ENST00000674142.1:n.864del (GLA)
ENST00000674634.2:c.777del (GLA)	ENSP00000502629.2:p.Gly261ValfsTer8
ENST00000675592.1:c.777del (GLA)	ENSP00000502239.1:p.Gly261ValfsTer21
ENST00000675799.1:c.*85del (GLA)	ENSP00000502661.1:n.*85del
ENST00000675968.1:n.3431del (GLA)
ENST00000676156.1:c.741del (GLA)	ENSP00000501730.1:p.Gly249ValfsTer8
ENST00000676372.1:c.777del (GLA)	ENSP00000502805.1:p.Gly261ValfsTer8
ENST00000218516.3:c.777del (GLA)	ENSP00000218516.3:p.Gly261ValfsTer8
ENST00000409170.3:c.300+3352del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3352del
ENST00000409338.5:c.177+6987del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6987del
ENST00000468823.1:n.326del (GLA)
ENST00000493905.6:c.*165del (GLA)	ENSP00000476935.1:n.*165del
NM_000169.2:c.777del , LRG_672t1:c.777del (GLA)	NP_000160.1:p.Gly261ValfsTer8
NM_001199973.1:c.408+3352del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3352del
NM_001199974.1:c.285+6987del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6987del
XR_938397.1:n.862del (GLA)
XR_938397.2:n.883del (GLA)
NM_001199973.2:c.300+3352del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3352del
NM_001199974.2:c.177+6987del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6987del
NM_000169.3:c.777del (GLA) MANE Select	NP_000160.1:p.Gly261ValfsTer8
NR_164783.1:n.856del (GLA)