Canonical Allele Identifier: CA2499226268

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1263236
• ClinVar RCV Id: RCV001672053
• dbSNP Id: rs2147471663

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398303del , CM000685.2:g.101398303del	GRCh38
NC_000023.10:g.100653291del , CM000685.1:g.100653291del	GRCh37
NC_000023.9:g.100539947del	NCBI36
NG_007119.1:g.14661del , LRG_672:g.14661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*445+67del (GLA)	ENSP00000501124.2:n.*445+67del
ENST00000674127.2:c.*502+67del (GLA)	ENSP00000501044.2:n.*502+67del
ENST00000710365.1:c.1074+67del (GLA)	ENSP00000518234.1:n.1074+67del
ENST00000218516.4:c.999+67del (GLA) MANE Select	ENSP00000218516.4:n.999+67del
ENST00000466414.2:n.1135+67del (GLA)
ENST00000468823.2:n.2218del (GLA)
ENST00000479445.2:n.1613+67del (GLA)
ENST00000480513.6:c.*307+67del (GLA)	ENSP00000497055.1:n.*307+67del
ENST00000486121.6:c.1044+67del (GLA)
ENST00000649178.1:c.1122+67del (GLA)	ENSP00000498186.1:n.1122+67del
ENST00000674127.1:c.1099+67del (GLA)	ENSP00000501044.1:n.1099+67del
ENST00000674142.1:n.1303+67del (GLA)
ENST00000674634.2:c.1066del (GLA)	ENSP00000502629.2:p.Ser356LeufsTer?
ENST00000675592.1:c.802-204del (GLA)	ENSP00000502239.1:n.802-204del
ENST00000675799.1:c.*524+67del (GLA)	ENSP00000502661.1:n.*524+67del
ENST00000675968.1:n.3870+67del (GLA)
ENST00000676156.1:c.963+67del (GLA)	ENSP00000501730.1:n.963+67del
ENST00000676372.1:c.1065+67del (GLA)	ENSP00000502805.1:n.1065+67del
ENST00000218516.3:c.999+67del (GLA)	ENSP00000218516.3:n.999+67del
ENST00000409170.3:c.300+2846del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2846del
ENST00000409338.5:c.177+6481del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6481del
ENST00000466414.1:n.325+67del (GLA)
ENST00000493905.6:c.*387+67del (GLA)	ENSP00000476935.1:n.*387+67del
NM_000169.2:c.999+67del , LRG_672t1:c.999+67del (GLA)	NP_000160.1:n.999+67del
NM_001199973.1:c.408+2846del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2846del
NM_001199974.1:c.285+6481del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6481del
XR_938397.1:n.1084+67del (GLA)
XR_938397.2:n.1105+67del (GLA)
NM_001199973.2:c.300+2846del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2846del
NM_001199974.2:c.177+6481del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6481del
NM_000169.3:c.999+67del (GLA) MANE Select	NP_000160.1:n.999+67del
NR_164783.1:n.1078+67del (GLA)