Canonical Allele Identifier: CA1139667725

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 992230
• ClinVar RCV Id: RCV001280614
• dbSNP Id: rs1928287177

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400745_101400746del , CM000685.2:g.101400745_101400746del	GRCh38
NC_000023.10:g.100655733_100655734del , CM000685.1:g.100655733_100655734del	GRCh37
NC_000023.9:g.100542389_100542390del	NCBI36
NG_007119.1:g.12218_12219del , LRG_672:g.12218_12219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*5_*6del (GLA)	ENSP00000501124.2:n.*5_*6del
ENST00000674127.2:c.*5_*6del (GLA)	ENSP00000501044.2:n.*5_*6del
ENST00000710365.1:c.634_635del (GLA)	ENSP00000518234.1:p.Met212ValfsTer6
ENST00000218516.4:c.559_560del (GLA) MANE Select	ENSP00000218516.4:p.Met187ValfsTer6
ENST00000466414.2:n.478_479del (GLA)
ENST00000468823.2:n.1494_1495del (GLA)
ENST00000479445.2:n.956_957del (GLA)
ENST00000480513.6:c.547+886_547+887del (GLA)	ENSP00000497055.1:n.547+886_547+887del
ENST00000486121.6:c.604_605del (GLA)
ENST00000649178.1:c.682_683del (GLA)	ENSP00000498186.1:p.Met228ValfsTer6
ENST00000674127.1:c.602_603del (GLA)	ENSP00000501044.1:n.602_603del
ENST00000674142.1:n.646_647del (GLA)
ENST00000674634.2:c.559_560del (GLA)	ENSP00000502629.2:p.Met187ValfsTer6
ENST00000675592.1:c.559_560del (GLA)	ENSP00000502239.1:p.Met187ValfsTer6
ENST00000675799.1:c.547+886_547+887del (GLA)	ENSP00000502661.1:n.547+886_547+887del
ENST00000675968.1:n.1494_1495del (GLA)
ENST00000676156.1:c.523_524del (GLA)	ENSP00000501730.1:p.Met175ValfsTer6
ENST00000676372.1:c.559_560del (GLA)	ENSP00000502805.1:p.Met187ValfsTer6
ENST00000218516.3:c.559_560del (GLA)	ENSP00000218516.3:p.Met187ValfsTer6
ENST00000409170.3:c.300+5288_300+5289del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5288_300+5289del
ENST00000409338.5:c.177+8923_177+8924del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8923_177+8924del
ENST00000468823.1:n.108_109del (GLA)
ENST00000480513.5:n.477+886_477+887del (GLA)
ENST00000486121.5:n.604_605del (GLA)
ENST00000493905.6:c.559_560del (GLA)	ENSP00000476935.1:p.Met187ValfsTer6
NM_000169.2:c.559_560del , LRG_672t1:c.559_560del (GLA)	NP_000160.1:p.Met187ValfsTer6
NM_001199973.1:c.408+5288_408+5289del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5288_408+5289del
NM_001199974.1:c.285+8923_285+8924del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8923_285+8924del
XR_938397.1:n.587_588del (GLA)
XR_938397.2:n.608_609del (GLA)
NM_001199973.2:c.300+5288_300+5289del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5288_300+5289del
NM_001199974.2:c.177+8923_177+8924del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8923_177+8924del
NM_000169.3:c.559_560del (GLA) MANE Select	NP_000160.1:p.Met187ValfsTer6
NR_164783.1:n.581_582del (GLA)